Genotype-Phenotype Coupling: Clues to Define Endophenotypes in Autism

Supplemental tables 1

SUPPLEMENTARY TABLES

Supplementary table 1. Conversion table which maps the clinical synopsis to known MeSH terms.

Text Observation MeSH Name Abdominal tenderness Abdominal Injuries Abnormal amino acid metabolism Amino Acid Metabolism, Inborn Errors Abnormal breathing movement Respiration Disorders Abnormal EEG Nervous System Malformations Abnormal eye movements Eye Abnormalities Abnormal fairs Fear Abnormal genitalia Sex Differentiation Disorders Abnormal glucose tolerance Glucose Metabolism Disorders Abnormal levels of fat in your blood Arteriosclerosis Abnormal manner of walking (gait) Gait Disorders, Neurologic Abnormal muscle tone Muscle Hypertonia Abnormal or delayed sensory motor performance Psychomotor disorders Abnormal preoccupation for food (color, texture) Stereotyped Behavior Abnormal reflex Reflex, Abnormal Abnormal sleep pattern Behavioral Symptoms Abnormal Speech development Speech disorders Abnormal tooth color Tooth Discoloration Abnormalities of the eyes Eye Abnormalities Abnormalities of the photopic ERG Vision, Low Absence of corpus callosum Brain Diseases Absence of frontal sinuses Frontal sinus Absence of septum pellucidum Brain Diseases Absent Finger and Toenails Nail Diseases Absent speech Mutism Achromatopsia Color Vision Defects Acrochordons Skin Diseases Acrocyanosis Skin Diseases Adenocarcinoma of the ileum Adenocarcinoma Agenesis of corpus callosum Brain Diseases Agenesis of the gallbladder Gallbladder Diseases Aggressive behavior Aggression Aggressiveness Aggression Agyria (absence of gyri) Nervous System Malformations Albino pupillary reflex Pupil Disorders Almond-shaped eyes Eye abnormalities Aloof manner Social Isolation Ambiguous genitalia Genital Diseases, Male Ambiguous genitalia Genital Diseases, Female Ambiguous genitalia Sex Differentiation Disorders Angina Angina pectoris Angle-Closure glaucoma Glaucoma, Angle-Closure Anophthalmia Anophthalmos Anosmia Olfaction Disorders Anterior lenticonus Lens Diseases Anteverted nares Craniofacial Abnormalities Antisocial Behavior Attention deficit and disruptive behavior disorders Aortic Arch Abnormalities Aortic Arch Syndromes Aortic regurgitation Aortic Valve Insufficiency Aphtus ulcers Stomatitis, Aphthous Appetite loss Eating Disorders Arachnodactyly Marfan Syndrome Arborescent papillomas Papilloma Areflexia Reflex, Abnormal Arthralgias Arthralgia Arthropathy Arthropathy, Neurogenic Articulation defects Articulation Disorders Aspiration Pneumonia, Aspiration Asplenia Splenic Diseases Ataxic gait Gait Ataxia Supplemental tables 2

Atheroeruptive xanthoma Xanthomatosis Atrial septal defect Heart Septal Defects, Ventricular Atrophic gastritis Gastritis, Atrophic Atrophic glossitis Glossitis Atrophic scars Cicatrix Atrophy of shins (muscle) Muscular Atrophy Attends more to parts of objects Obsessive Behavior Attention deficit hyperactivity disorder (ADHD) Attention Deficit Disorder with Hyperactivity Auditory impairment Auditory Perceptual Disorders Autism Autistic Disorder Azoospermia Oligospermia Barrel-shaped rib cage Musculoskeletal Abnormalities Basal cell carcinoma Carcinoma, Basal Cell Bedridden Asthenia Behavior changes Behavioral Symptoms Behavior problems (food related) Behavioral Symptoms Behavioral abnormalities Behavioral Symptoms Behavioral disturbances Behavioral Symptoms Behavioral problems Behavioral Symptoms Behavioral/Psychiatric manifestations Behavioral Symptoms Benign tumors of hair follicle Hamartoma Bifid tongue Tongue, Fissured Bifid ureter Ureteral Diseases Bifid Uvula Cleft palate Bile duct proliferation Bile Duct Neoplasms Biliary cirrhosis Liver Cirrhosis, Biliary Biliary dysgenesis Bile duct diseases Bimanual synkinesia Movement Disorders Bladder complications Bladder diseases Bleeding Hemorrhage Bleeding abnormalities Hemorrhage Bleeding after giving birth Postpartum hemorrhage Bleeding after surgery Postoperative hemorrhage Bleeding after trauma Hemorrhage Bloated eyelids Eyelid Diseases Bloating Signs and Symptoms, Digestive Blood in the stool Melena Blood vessel abnormalities Cardiovascular Abnormalities Blue sclera Scleral Diseases Blue sclerae Scleral Diseases Bluish discoloration skin and mucous membrane Purpura Blurred vision Vision Disorders Body twisting/bending Stereotypic Movement Disorder Bone destruction Osteonecrosis Bone dysplasia Bone Diseases, Developmental Bone fracture Fractures Bone pain Pain Bone remodeling disorder Bone Diseases, Developmental Bone-related arthritis Osteoarthritis Bony paranasal bossing Neoplasms, Bone Tissue Bowed legs Lower Extremity Deformities, Congenital Bowel complications Gastrointestinal diseases Brachycephaly Craniofacial Abnormalities Brachydactyly Limb Deformities, Congenital Bradykinesia Hypokinesia Brain abnormalities Neurologic Manifestations Brain and neurochemical abnormalities Neurologic Manifestations Brain diseases Neurologic Manifestations Brain stem compression Brain Damage, Chronic Breathing difficulty, lying down Respiratory Insufficiency Breathing disturbances Respiratory Insufficiency Breech presentation during delivery Breech presentation Brittle hair Hair Broad alveolar ridges Jaw Diseases Broad chest Musculoskeletal Abnormalities Broad nasal bridge Craniofacial Abnormalities Bronchospastic symptoms Bronchial Spasm Supplemental tables 3

Bruising easily (discoloration of skin surface) Skin abnormalities Brushfield spots Hyperpigmentation Bulbar dysfunction Craniomandibular Disorders Bulbar palsies Bulbar Palsy, progressive Burning Pain Calcium oxalate urolithiasis Urinary Calculi Calcium Pyrophosphate Dihydrate (CPPD) crystal deposition Chondrocalcinosis Camptodactyly Hand Deformities, Congenital Cancer Neoplasms Capillary proliferation Vascular Diseases Cardiac abnormalities Heart Diseases Cardiac conduction defects Heart Diseases Cardiac ischemia Myocardial Ischemia Cardiomyopathy Cardiomyopathies Carnosinase deficiency Dipeptidases Carnosinemia Amino Acid Transport Disorders, Inborn Carnosinuria Aminoaciduria, Renal Catatonic behavior Schizophrenia, Catatonic Caudal regression syndrome Bone Diseases, Developmental Central scotomata Scotoma Cepocephaly Craniofacial Abnormalities Cerebellous ataxia Cerebellar ataxia Cerebral atrophy Atrophy Cerebral atrophy/myelin abnormality Atrophy Cerebral cortex abnormalities Nervous System Malformations Cerebral white matter disorders Cerebrovascular Disorders Change in bowel habits Signs and Symptoms, Digestive Changes in thinking during childhood Mental Disorders Diagnosed in Childhood Chest abnormalities Musculoskeletal Abnormalities Chest deformities Musculoskeletal Abnormalities Chest pressure Chest pain Childhood polyphagia Hyperphagia Chordee Penile Diseases Choreoathetosis Athetosis Choroidal sclerosis Choroideremia Chronic active gastritis Gastritis Chronic bronchopulmonary infection Aspergillosis, Allergic Bronchopulmonary Chronic diarrhea Diarrhea Chronic distal motor polyneuropathy Refsum Disease Chronic myelogenous leukemia Leukemia, Myeloid, Chronic Chronic nephritis Nephritis Chronic otitis media Otitis Media Chronic persistent gastritis Gastritis Chronic persistent rhinorrhea Cerebrospinal Fluid Rhinorrhea Chronic productive cough Cough Chronic progressive ophthalmoplegia Ophthalmoplegia Chronic rhinitis Rhinitis Chronic sinusitis Frontal sinusitis Ciliary dyskinesia Ciliary Motility Disorders Circulation problems Cardiovascular Abnormalities Claw hand Hand Deformities, Congenital Claw hand deformities Hand Deformities, Congenital Clawfoot Foot Deformities, Congenital Clay-colored or white stools Feces Clefts of lip Cleft lip Clefts of palate Cleft palate Clefts of uvula Uvula Clinodactyly Limb Deformities, Congenital Clubbing of fingers Osteoarthropathy, Secondary Hypertrophic Clumsiness Motor Skills Disorders Clumsy gait Gait Disorders, Neurologic Coarctation of aorta Aortic Coarctation Coarse facies Facies Cochlear malformation Cochlear Diseases Cognitive abnormalities Neurobehavioral Manifestations Color blindness Color Vision Defects Color vision deficiency Color vision defects Supplemental tables 4

Colpocephaly Brain Diseases Communication hydrocephalus Hydrocephalus Communication problems Behavioral symptoms Compensated hypothyroidism Hypothyroidism Compulsiveness/Rituals of behavior Ceremonial Behavior Conductive deafness Hearing loss, Conductive Cone-rod retinal dystrophy Retinitis Pigmentosa Cone-shaped epiphyses Bone Diseases Congenital bilateral hip dislocation Hip dislocation, Congenital Congenital bleeding diathesis Hemorrhage Congenital heart defects Heart defects, congenital Congenital heart disease Heart defects, Congenital Congenital hip dislocation Hip dislocation Congenital ichthyosis Ichthyosis Congenital myopathy Myopathies, Structural, Congenital Congenital neurosensory deafness Hearing loss, sensorineural Congenital torticollis Torticollis Congestive heart failure Heart Failure, Congestive Conotruncal malformations Ventricular Outflow Obstruction Contractures (tightness) Contracture Convulsions Seizures Coprolalia Speech Disorders Cor pulmonale Pulmonary Heart Disease Corneal abnormalities Corneal Diseases Corneal clouding Cataract Corneal degeneration Corneal Diseases Corneal flatness Corneal Diseases Corneal opacities Corneal Opacity Coronary Artery Disease Coronary Arteriosclerosis Coronary heart disease Coronary Disease Corpus callosum hypoplasia Brain Diseases Coughing Cough Coxa valga Joint diseases Coxa vara Joint diseases Cramping Abdomen, acute Cranial Asymmetry Craniofacial Abnormalities Cranial hyperostosis Hyperostosis Cranial nerve palsies Cranial Nerve Diseases Craniofacial asymmetry Craniofacial Abnormalities Craniometaphyseal dysplasia Osteochondrodysplasias Cubitus valgus Upper Extremity Deformities, Congenital Cutis marmorata Urticaria Cyclopia (eyes fused into one) Anophthalmos Cystic kidneys Kidney, Cystic Cystic maculopathy Macular Degeneration Cystic retinal degeneration Kidney, Cystic Cytochrome b5 deficiency Cytochromes b5 Dark adherent skin scales Skin abnormalities Dark urine Urologic diseases Darkening of skin color (bronzing) Skin abnormalities Deafness, sensorineural Hearing loss, sensorineural Decreased appetite Eating Disorders Decreased deep tendon reflexes Reflex, Abnormal Decreased fetal movement Fetal Diseases Decreased infertility in females Infertility, female Decreased nonverbal IQ Communication Disorders Decreased perspiration Hypohidrosis Decreased pigmentation of choroid and iris Eye abnormalities Decreased vibratory sense in lower limbs Hypesthesia Decreased visual acuity Vision disorders Decreased vomiting Signs and Symptoms, Digestive Defective blue and yellow vision Color Vision Defects Deficient muscle mitochondrial complex II Electron Transport Complex II Deformed nose Nose Deformities, acquired Deformity of distal femur Lower Extremity Deformities, Congenital Deformity/Enlargement of bones Hyperostosis Degeneration lateral corticospinal tracts Spinocerebellar Degenerations Supplemental tables 5

Degeneration of white matter tracts Nerve degeneration Delayed cognitive development Neurobehavioral manifestations Delayed early milestones in motor skills Developmental Disabilities Delayed gross motor development Psychomotor Disorders Delayed growth Developmental Disabilities Delayed motor development Psychomotor Disorders Delayed motor milestones Developmental Disabilities Delayed motor skill development Psychomotor disorders Delayed walking Developmental Disabilities Demyelination Demyelinating Diseases Demyelination of motor nerves Demyelinating Diseases Dental abnormalities Tooth diseases Dental disease Tooth Diseases Dependent acrocyanosis Cyanosis Depigmented fundus Eye Abnormalities Depressed nasal bridge Craniofacial Abnormalities Developmental delay Developmental Disabilities Developmental delay in general Developmental Disabilities Diabetes Diabetes Mellitus Diabetes type II Diabetes Mellitus, Type 2 Diaphragmatic hernia Hernia, Diaphragmatic Diastasis recti Musculoskeletal Abnormalities Diastematomyelia Neural Tube Defects Difficulty in expressing needs Communication Disorders Difficulty seeing dim lighting Vision Disorders Difficulty with abstract language Language Disorders Difficulty with memory Learning Disorders Diffuse increased pigmentation of skin Skin abnormalities Diminished auditory attention Auditory Perception Diminished deep tendon reflexes Reflex, Abnormal Diminished fear for separation Reactive Attachment Disorder Diminished interest in other children Social Behavior Disorders Diplegia Cerebral Palsy Disruptive Behavior Attention deficit and disruptive behavior disorders Distal intestinal obstruction syndrome Intestinal Obstruction Distal muscle atrophy Muscular Atrophy Distal muscle weakness Muscle Weakness Distal phalangeal hypoplasia Limb Deformities, Congenital Distal sensory impairment Hereditary Motor and Sensory Neuropathies Distal sensory impairment Hereditary Motor and Sensory Neuropathies Distension Signs and Symptoms, Digestive Distinctive facial features Facies Distractibility Attention deficit disorder with hyperactivity Disturbances in playing behavior Child Development Disorders, Pervasive Disturbed sleep Behavioral Symptoms Dizziness Dizziness Dolichocephaly Craniofacial Abnormalities Dolichostenomelia Marfan Syndrome Dolicocephaly Craniofacial Abnormalities Double jointed in hands and feet Joint diseases Double outlet right ventricle Ventricular Dysfunction, Right Down-slanting palpebral fissures Eyelid Diseases Drowsiness Sleep stages Duodenal ulcers Duodenal Ulcer Dyschromatopsia Color vision defects Dysmorphic skull and facial bones Craniofacial Abnormalities Dysotosis multiplex Dysostoses Dysphagia Deglutition Disorders Ear anomalies Ear Deformities, Acquired Early conductive hearing loss Hearing Loss, Conductive Early dentition loss Tooth Loss Early glaucoma Glaucoma Early morning awakening Sleep Initiation and Maintenance Disorders Early ossification of capital femoral epiphyses Ossification, Heterotopic Easily abraded enamel Dental Enamel Hypoplasia Easy bruisability Skin abnormalities Easy bruising Skin abnormalities Supplemental tables 6

Ectopic testes Testicular Diseases EEG abnormalities Nervous System Malformations Elliptocytosis Elliptocytosis, Hereditary Emotional disturbances Affective Symptoms Emotional instability Affective Symptoms Emotional lability Affective Symptoms Emotional outbursts Affective Symptoms Emotional problems Affective Symptoms Enamel abnormalities Amelogenesis Imperfecta Enamel hypoplasia Dental Enamel Hypoplasia Encephalopathy Brain Damage, Chronic End-stage Renal Disease (ESRD) Kidney Failure, chronic Enlarged liver Hepatomegaly Enlarged lymph nodes Giant Lymph Node Hyperplasia Enlarged vestibular aqueducts Vestibular Diseases Enlargement of thyroid gland Thyroid Neoplasms Epicanthal folds Eyelid Diseases Epiphyseal stippling Chondrodysplasia Punctata Episodic dystonic hand movements Dystonic Disorders Erectile dysfunction Impotence Erythematous malar rash Lupus Erythematosus, Cutaneous Ethmocephaly Craniofacial Abnormalities Eunuchoid habitus Eunuchism Euthyroid Euthyroid Sick Syndromes Excess of amniotic fluid during pregnancy Polyhydramnios Excessive freckling Melanosis Excessive need for sucking Sensation Disorders Excretion of saccharopine in urine Hyperlysinemias Expressive language delay Language Development Disorders Extensible joints Joint instability Extensor plantar responses Reflex, Babinski Extreme flexible joints Joint instability Exuberant social fair and avoidance Phobic Disorders Eye blinks Stereotypic Movement Disorder Eye fatigue Asthenopia Eye movement disorder Ocular Motility Disorders Eye problems Eye Manifestations Facial capillary hemangioma Hemangioma, Capillary Facial cleft Stomatognathic System Abnormalities Facial deformities Maxillofacial Abnormalities Facial dysmorphism Maxillofacial Abnormalities Facial palsy Facial Paralysis Facial tics Tics Factor VIII deficiency Hemophilia A Failure to orient to own name by 12 months Agnosia Fainting Syncope Fair skin Hypopigmentation Farsightedness Hyperopia Fast heart rate Tachycardia F-cell production Vascular Diseases Feeding difficulties Feeding and Eating Disorders of Childhood Feeding problems Feeding and Eating Disorders of Childhood Feeling tired Mental fatigue Female decreased fertility Infertility, Female Fibrofolliculomas Skin Diseases Finger abnormalities Hand Deformities, Congenital Finger and toe clubbing Osteoarthropathy, Secondary Hypertrophic Flat Facial Expression Muscle Hypotonia Flat Facial Expression Communication Disorders Flat facies Maxillofacial Abnormalities Flat feet Flatfoot Flat jejunal mucosa Jejunal Diseases Flat midface Maxillofacial Abnormalities Flat philtrum Craniofacial Abnormalities Flesh to pink-red nodules Skin Abnormalities Flushed skin Skin abnormalities Follicular non-Hodgkin lymphoma Lymphoma, Follicular Supplemental tables 7

Foot drop Gait Disorders, Neurologic Foot infections Foot diseases Foot stamping Stereotyped Behavior Foot ulcerations Foot ulcer Forearm fullness Upper Extremity Deformities, Congenital Freckles in sun-exposed areas Melanosis Frequent gas pains Flatulence Frontal bossing Craniofacial Abnormalities Frontal lobe hypoplasia Brain Diseases Full cheeks Zygoma Fullness Abdominal pain Fullness in the left upper abdomen Abdominal pain Functional blindness Blindness Gait disturbances Gait Disorders, Neurologic Gallbladder disease Gallbladder Diseases Gallbladder dysfunction Gallbladder Diseases Gallbladder problems Gallbladder Diseases Gamma-glutamyltranspeptidase deficiency Gamma-Glutamyltransferase Gastric ulcers Stomach Ulcer Gastrointestinal abnormalities Signs and Symptoms, Digestive Gastrointestinal bleeding Gastrointestinal hemorrhage Gastrointestinal disorders Signs and Symptoms, Digestive Gastrointestinal problems Signs and Symptoms, Digestive General anxiety Anxiety Generalized depression of sensitivity Vision Disorders Generalized itching Pruritus Generalized obesity Obesity Generalized pruritis Pruritus Genitourinary defects Urogenital Abnormalities Giant platelets Blood Platelet Disorders Gingival bleeding Gingival hemorrhage Glutathionemia Glutathione Synthase Glutathionuria Gamma-Glutamyltransferase Glycolicaciduria Urologic Diseases Gradual loss of peripheral vision Vision Disorders Granulomatous colitis Crohn Disease Gray matter heterotopias Brain Diseases Growth delay Growth Disorders Growth retardation Growth Disorders Hair loss Alopecia Hammer toes Hammer Toe Syndrome Hand flapping Stereotypic Movement Disorder Handlebar clavicles Musculoskeletal Abnormalities Head jerking Stereotypic Movement Disorder Head nodding Stereotypic Movement Disorder Hearing impairment Hearing loss Hearing problems Hearing Disorders Heart abnormalities Heart Defects, Congenital Heart and blood vessel problems Cardiovascular Abnormalities Heart attack Myocardial Infarction Heart disease Heart Diseases Heavy sweating Hyperhidrosis Helicobacter pylory infection susceptibility Helicobacter Infections Hemeralopia (loss of vision in the dark) Vision disorders Hemihypertrophy Hypertrophy Hemodynamic instability Vascular Diseases Hemolytic anemia Anemia, Hemolytic Hepatic fibrosis Liver Diseases Hepatocellular carcinoma Carcinoma, Hepatocellular Hepatocellular disease Liver Diseases Hereditary nonpolyposis colorectal carcinoma Colorectal Neoplasms, Hereditary Nonpolyposis Hiatal Hernia Hernia, Hiatal Hiatus hernia Hernia, Hiatal High blood pressure Hypertension High levels of blood proline Proline oxidase High levels of glutathione in plasma and urine Gamma-Glutamyltransferase High levels of iron and copper in blood Zellweger Syndrome Supplemental tables 8

High pain threshold Pain Insensitivity, Congenital High tolerance to pain Pain Insensitivity, Congenital High-arched palate Palate Highly arched palate Palate Highly sensitive to sensory input Sensation Disorders High-pitched cat-like cry Crying Hip subluxation Hip Injuries Hoarse voice Hoarseness Hyperactive behavior Psychomotor agitation Hyperactivity Psychomotor agitation Hyperbilirubinemia Hyperbilirubinemia Hypercalcemia Hypercalcemia Hypercalciuria Calcium Metabolism Disorders Hyperconvex fingernails Nails, Malformed Hyperextensible skin Ehlers-Danlos Syndrome Hyperinsulinemia Hyperinsulinism Hyperkeratosis Hyperkeratosis, Epidermolytic Hypermetropia Hyperopia Hypernasal speech Nasal Obstruction Hypernephroma Carcinoma, Renal Cell Hyperphosphatemia Phosphorus Metabolism Disorders Hyperreflexia Reflex, Abnormal Hypersalivation Sialorrhea Hypersensitive to sounds or touch Hyperacusis Hypersensitivity to sunlight Photosensitivity Disorders Hyperthermia Fever Hypertonia Muscle Hypertonia Hypertonicity Muscle Hypertonia Hypertrophic clitoris Vaginal Diseases Hypertrophic ichthyosis Ichthyosis, X-linked Hypertrypsinemia Trypsin Hypocholesterolemia Metabolic Diseases Hypodontia Anodontia Hypogonadotropic hypogonadism Hypogonadism Hypohidrotic skin Ectodermal dysplasia Hypoketotic hypoglycemia Hypoglycemia Hypomagnesemia Magnesium Deficiency Hypomethioninemia Amino Acid Metabolism, Inborn Errors Hypoplastic clitoris Genital Diseases, Female Hypoplastic digits Limb Deformities, Congenital Hypoplastic iliac wings Musculoskeletal Abnormalities Hypoplastic labia minora Genital Diseases, Female Hypoplastic lungs Lung Diseases Hypoplastic uterus Uterine Diseases Hyporeflexia Reflex, Abnormal Hypotelorism Craniofacial Abnormalities Hypothalamic dysfunction Hypothalamic Diseases Hypothalamic hamartoma Epilepsy, Temporal Lobe Hypotonia Muscle Hypotonia Hypoxia Anoxia Hypsarrhythmia Spasms, Infantile Immature speech rhythms Speech Disorders Immotile cilia Ciliary Motility Disorders Immune Deficiency Immunologic Deficiency Syndromes Immunoglobulin dysfunction/reduction Immunologic Deficiency Syndromes Impaired ability to comfort Reactive Attachment Disorder Impaired ability to form peer relationships Child Behavior Disorders Impaired ability to look for comfort or help Reactive Attachment Disorder Impaired curiosity Developmental Disabilities Impaired expression of language Language Development Disorders Impaired imitation Imitative Behavior Impaired initiation of activities Developmental Disabilities Impaired Interest for others using language Social Behavior Disorders Impaired interests and great intensity of perception Obsessive Behavior Impaired language comprehension Language Disorders Impaired language development Language Development Disorders Impaired motor coordination Motor Skills Disorders Supplemental tables 9

Impaired neurological function Neurologic Manifestations Impaired processing of language Language Development Disorders Impaired reciprocal conversations Communication Disorders Impaired regard Child Development Disorders, Pervasive Impaired sexual development Sexual Development Impaired social response Social Isolation Impaired social smile Child Behavior Disorders Impaired swallowing Deglutition Disorders Impaired transport of phosphate Hypophosphatasia Impaired vision Vision, Low Impairment in reciprocal social interactions Social Behavior Disorders Impairment in verbal and nonverbal communication Communication Disorders Impairment of cognitive function Neurobehavioral Manifestations Imperforate anus Anus, Imperforate Impulsivity Impulsive behavior Inability to digest certain foods Gastrointestinal diseases Inability to move Quadriplegia Inability to relate to other people Child Behavior Disorders Inappropriate attachments to objects Affective Symptoms Inappropriate laughing or giggling Affective Symptoms Inappropriate questions or remarks Affective Symptoms Inappropriate word usage Speech Disorders Inattentiveness Attention deficit disorder with hyperactivity Incomprehensible speech Speech Disorders Incoordination Ataxia Increased deep tendon reflexes Reflex, Abnormal Increased production of urine Polyuria Increased risk of thyroid carcinoma Carcinoma Increased serum serotonin Serotonin Increased tolerance to pain Pain Insensitivity, Congenital Infantile neurodegenerative disease Neurodegenerative Diseases Infantile seizures Seizures Infantile spasms Spasms, Infantile Infections Infection Infertility Infertility, male Inflammation of the eye Endophthalmitis Inflexible adherence to routines or rituals Behavioral Symptoms Inguinal hernia Hernia, Inguinal Inner canthi abnormalities Ear Deformities, Acquired Insistence on sameness; resistance to change Stereotyped Behavior Instinctive sweet odor of the urine and sweat Signs and Symptoms, Digestive Instrumental use of other people's body for communication Communication Disorders Insufficient chewing behavior Psychomotor Disorders Intermittent cerebellar ataxia Cerebellar Ataxia Intestinal Malrotation Intestinal Diseases Intradural/Extradural lipoma Lipoma Intrahepatic biliary dysgenesis Cholestasis, Intrahepatic Intrahepatic cholestasis of pregnancy Cholestasis, Intrahepatic Intraretinal splitting Retinal Perforations Involuntary jerking muscle movements Myoclonus Iris albinism Albinism, Ocular Iris blue-gray to light brown Eye color Iris coloboma Coloboma Iris hypoplasia Eye Abnormalities Iris Transillumination Eye abnormalities Iris translucency Iris diseases Irregular epiphyses Bone Diseases Irregular metaphyses Bone Diseases Irregularly spaced teeth Malocclusion Irritability Irritable Mood Irritability and impaired social interaction Irritable Mood Itchiness Pruritus Itching Pruritus Itching skin Pruritus Jerky, marionette-type movements Motor Skills Disorders Joint attention Social Behavior Disorders Joint contractures Contracture Supplemental tables 10

Joint hyperextensibility Joint Instability Joint hypermobility Joint instability Joint laxity Joint instability Joint pain Arthralgia J-shaped sella turcica Craniofacial Abnormalities Kidney abnormalities Kidney diseases Kidney damage Kidney Failure Kidney tumors Kidney Neoplasms Lack of anticipation for being picked up Social Behavior Disorders Lack of energy Asthenia Lack of gaze monitoring by 18 months Developmental Disabilities Lack of motor coordination Motor Skills Disorders Lack of muscle tone Muscle Hypotonia Lack of shared enjoyment Behavioral Symptoms Lack of spontaneous/imaginative play Stereotyped Behavior Lactic acidosis Acidosis, Lactic Lacunar skull Craniofacial Abnormalities Language delay Language Development Disorders Language development deficit Language Development Disorders Language Developmental delay Language Development Disorders Large abdominal mass Signs and Symptoms, Digestive Large anteverted pinnae Ear Diseases Large eyes Eye Abnormalities Large fontanelles Craniofacial Abnormalities Large medial incisors Tooth Abnormalities Large mouth Mouth Abnormalities Large, open mouth Mouth Abnormalities Laryngotracheoesophageal cleft Respiratory System Abnormalities Late puberty Puberty Lax Abdominal muscles Musculoskeletal Abnormalities Lax ligaments Musculoskeletal Abnormalities Lax muscles Muscular Diseases Learning disabilities Learning Disorders Learning disability Learning Disorders Leg cramps Muscle Cramp Leiomyomatosis of esophagus Leiomyomatosis Leiomyomatosis of trachea and bronchi Leiomyomatosis Lenticonus Lens Diseases Leontiasis ossea Hyperostosis Frontalis Interna Lethargy Sleep Stages Leucocytes anomalies/Neutropenia Neutropenia Leukocyte inclusion bodies Inclusion Bodies Light-sensitive dermatitis Dermatitis Limb contractures Contracture Limb shortening Limb Deformities, Congenital Limb shortness Limb Deformities, Congenital Limited imitation of activity/play before 36 months Stereotyped Behavior Lissencephaly Nervous System Malformations Little or no eye contact Reactive Attachment Disorder Livedo reticularis Skin Diseases, Vascular Liver damage Liver Failure, Acute Liver disease Liver Diseases Liver problems Liver Diseases Lobulated tongue Tongue Diseases Long philtrum Maxillofacial Abnormalities Long tract signs Neurologic Manifestations Long, narrow thorax Musculoskeletal Abnormalities Looking pale Anemia Loose skin Skin Manifestations Loss of adaptive skills Adjustment Disorders Loss of appetite Eating Disorders Loss of body hair Alopecia Loss of central vision Vision Disorders Loss of communication skills Learning Disorders Loss of contrast sensitivity Vision Disorders Loss of eyebrows, eyelashes and beard Alopecia Loss of head control Craniomandibular Disorders Supplemental tables 11

Loss of language skills after acquired Learning Disorders Loss of motor skills Motor Skills Disorders Loss of playing and imaginary skills Child Development Disorders, Pervasive Loss of sex drive Libido Loss of skills related to physical illness Disabled Persons Loss of skills related to school or profession Disabled Children Loss of social interaction skills and responsiveness Social Behavior Disorders Loss of targeted use of hands Motor Skills Disorders Loving, happy and social demeanour Neurobehavioral Manifestations Low birth weight Infant, Low Birth Weight Low blood sugar Hypoglycemia Low muscle tone Muscle Hypertonia Low nasal bridge Craniofacial Abnormalities Low paroxonase Esterases Low vision Vision, Low Low, sloping forehead Craniofacial Abnormalities Low/sloping forehead Craniofacial Abnormalities Lower limb spasticity Muscle Spasticity Lower limb weakness Muscle Weakness Low-set ears Craniofacial Abnormalities Lumbar hyperlordosis Lordosis Lumbosacral dural ectasia Dilatation, Pathologic Lung cysts Bronchogenic Cyst Luxation of the hip Hip dislocation Lymphadenopathy Lymphatic Diseases Lymphocyte dysfunction/Lymphopenia Lymphopenia Lysosomal ceroid storage Lysosomal Storage Diseases, Nervous System Macrocephaly Craniofacial Abnormalities Macrothrombocytopenia Thrombocytopenia Macular Translucency Eye abnormalities Malar hypoplasia Craniofacial Abnormalities Male infertility Infertility, male Malformations of the face Maxillofacial Abnormalities Malrotation of the gut Gastrointestinal Diseases Mannerisms Stereotypic Movement Disorder Masklike facies Facies Meconium ileus Intestinal Obstruction Median cleft lip Cleft lip Megaloblastic anemia Anemia, Megaloblastic Memory loss Memory disorders Metaphyseal dysplasia Osteochondrodysplasias Metatarsus adductus Foot Deformities, congenital Methylcobalamin deficiency Vitamin B 12 Deficiency Microbrachycephaly Microcephaly Microcornea Corneal Diseases Micrognathia Micrognathism Micromelia Limb Deformities, Congenital Micronodular cirrhosis Fibrosis Micropenis Urogenital Abnormalities Microphthalmia Microphthalmos Microstomia Microstomia Middle ear abnormalities Ear Deformities, Acquired Midface hypoplasia Maxillofacial Abnormalities Mild anemia Anemia Mild digestive symptoms Signs and Symptoms, Digestive Mild elbow, hip, knee contractures Contracture Mild gross and fine motor clumsiness Motor Skills Disorders Mild hypertriglyceridemia Hypertriglyceridemia Mild loss of sensation in limbs, fingers and toes Hypesthesia Mild respiratory symptoms Respiratory Insufficiency Mild scarring Skin Abnormalities Mineralized soft tissue mass Calcinosis Minor facial dysmorphism Craniofacial Abnormalities Missed menstrual periods Genital Diseases, Female Missing front teeth (incisors) Incisor Missing teeth Incisor Missing toes Foot Deformities, Congenital Supplemental tables 12

Mitochondrial disorders Mitochondrial Diseases Mitral insufficiency Mitral Valve Insufficiency Motor behavioral abnormalities Mental Disorders Diagnosed in Childhood Motor tics Tics Mouthing or chewing behaviors Behavioral Symptoms Mouthing, licking, touching: self stimulation (sensory) Self Stimulation Movement disorder Movement Disorders Movement dynamics abnormalities Movement Disorders Mucosal Ulceration Colitis, Ulcerative Multiple Ecchymoses Ecchymosis Multiple fractures (at birth) Fractures, Spontaneous Muscle cramps Muscle Cramp Muscle spasm Muscle Spasticity Muscular guarding Muscle Cramp Myelomeningocele Meningomyelocele Myocardial Infarction Myocarditis Myoclonic convulsions Epilepsies, Myoclonic Myoclonic seizures Seizures Myoclonus, bilateral Myoclonus Myopathic changes Muscular Diseases Myopathy Muscular Diseases Nail abnormalities Nails, Malformed Narrow head Craniofacial Abnormalities Narrow/high palate Palate Nasal character of speech Nasal obstruction Nasal hypoplasia Nose Diseases Nasal speech Nasal obstruction Nasal voice Nasal obstruction Neck stretching Stereotypic Movement Disorder Neologism Language Development Disorders Neonatal hypotonia Muscle Hypotonia Nephrolithiasis Kidney Calculi Nervous system abnormalities Central Nervous System Diseases Neurodegeneration Nerve Degeneration Neurofibromatosis Neurofibromatoses Neurologic problems Neurologic Manifestations Neurological disorders Neurologic Manifestations Neurological regression Neurodegenerative Diseases Neutral hyperaminoaciduria Aminoaciduria, Renal Night sweats Sweating No babbling by 12 months Language Development Disorders No fear of danger Dangerous Behavior No gestural communication by 12 months Communication Disorders No pretend play by 18 months Developmental Disabilities No real fears of danger Dangerous Behavior No sense of danger Dangerous Behavior No single words by 16 months Language Development Disorders No tanning Skin abnormalities No use of index finger Communication Disorders Nonsyndromic deafness Deafness Nose abnormalities Nose Deformities, Acquired Nose bleeds Epistaxis Nystagmus Nystagmus, Pathologic Obliteration of sinuses Paranasal Sinus Diseases Ocular hypertelorism Hypertelorism Ocular problems Eye abnormalities Oculocutaneous albinism Albinism, Oculocutaneous Odd prosody of speech Speech Disorders Odontoid hypoplasia Odontodysplasia Olfactory impairment Olfactory Nerve Diseases Olfactory lobe agenesis Brain Diseases Oligodactyly Limb Deformities, Congenital Olydactyly Limb Deformities, Congenital Omphalocele Hernia, Umbilical Oncocytic cardiomyopathy Cardiomyopathy, Hypertrophic Opisthotonos Central Nervous System Diseases Optic neuropathy Optic Nerve Diseases Supplemental tables 13

Organ failure in cases of sepsis Sepsis Organophosphate poisoning sensitivity Phosphoric Acid Esters Orofacial dyspraxia Apraxias Osteoarthrosis Osteoarthritis Osteogenic sarcoma Osteosarcoma Osteopathia striata Osteosclerosis Osteopenia Bone Diseases, Metabolic Overriding aorta Heart Valve Diseases Oversensitivity to light Photosensitivity Disorders Oversensitivity to pain Hyperalgesia Overweight Weight gain Ovotestis Hermaphroditism Pachygyria (incomplete development of gyri) Nervous System Malformations Pain in the joints Arthralgia Pain on the back Back Pain Painful bone deformity Bone Diseases, Developmental Palpable mass in the flank or abdomen Signs and Symptoms, Digestive Palpitation Arrhythmia Palpitations Tachycardia Pancreatic cysts Pancreatic Cyst Pancreatic fibrosis Pancreatic Diseases Pancreatic insufficiency Exocrine Pancreatic Insufficiency Panic attacks Panic disorder Papillary carcinoma of thyroid Carcinoma, Papillary Papillomas Papilloma Papillomatosis Papilloma Parathyroid absence Parathyroid Diseases Parathyroid hypoplasia Parathyroid Diseases Paravertebral stippling Chondrodysplasia Punctata Paresthesias Paresthesia Parkinsonism Parkinsonian Disorders Paroxysmal laughter Behavioral Symptoms Patchy alopecia Alopecia areata Patent ductus arteriosus Ductus Arteriosus, Patent Pathologic fractures Fractures, Spontaneous Pectus carinatum Bone diseases, Developmental Pectus excavatum Funnel Chest Peculiar facies Facies Pelvic girdle muscle weakness Muscle Weakness Perceptive deafness Deafness Peripheral field loss Amblyopia Peripheral neuropathy Peripheral Nervous System Diseases Peroxisomal (Zellweger) Zellweger Syndrome Perseverance Stereotyped Behavior Persistent early evening sleep onset Sleep Disorders, Circadian Rhythm Personality changes Behavioral Symptoms Pes calcaneovarus Foot Deformities, Congenital Pes cavus Foot Deformities Pes planus Flatfoot Petechiae Purpura Phonology deficits Articulation Disorders Photosensitivity Photosensitivity Disorders Physical overactivity Hyperkinesis Physical underactivity Hypokinesia Pigmentary abnormality of macula Eye abnormalities Pigmentary retinopathy Retinitis Pigmentosa Pigmentary retinopathy/chorioretinits Retinitis Pigmentosa Pigmentation changes Pigmentation Disorders Pigmented naevi Hyperpigmentation Platyspondyly Spinal Diseases Polyarticular chondrocalcinosis Chondrocalcinosis Polycystic kidney Polycystic Kidney Diseases Polycystic liver disease Liver Diseases Polyepiphyseal dysplasia Osteochondrodysplasias Polyneuropathy Polyneuropathies Polyneuropathy (Refsum) Refsum Disease Polyostotic osteolytic expansile dysplasia Osteolysis Supplemental tables 14

Polyps of the nose Nasal Polyps Poor concentration and focus Neurobehavioral Manifestations Poor control of movement Motor Skills Disorders Poor discipline Neurobehavioral manifestations Poor exercise tolerance Exercise Tolerance Poor feeding Feeding and Eating Disorders of Childhood Poor fine motor coordination Motor Skills Disorders Poor gross motor coordination Motor Skills Disorders Poor growth Growth Poor neonatal suck and swallow reflexes Deglutition Disorders Poor stamina Physical Endurance Poor suck Sucking Behavior Poor wound healing Hemorrhage Poorly aerated mastoids Mastoiditis Porencephaly Brain Diseases Postaxial polydactyly Polydactyly Postmenopausal osteoporosis Osteoporosis, Postmenopausal Postural reflex loss Reflex, Abnormal Potential lethal coma Coma Precocious atherosclerosis Arteriosclerosis Premature arthritis Arthritis Premature osteoarthritis Osteoarthritis Prenatal growth failure Prenatal injuries Presence of various infections Infection Primary liver cancer Liver Neoplasms Problems around the mouth Oral Manifestations Progressive encephalomyopathy Mitochondrial Encephalomyopathies Progressive myopathy Muscular Diseases Progressive neurodegeneration Nerve Degeneration Progressive spasticity Muscle Spasticity Prolonged bleeding Hemorrhage Prominent choroidal vessels Eye Diseases Prominent ears Ear Deformities, Acquired Prominent forehead Craniofacial Abnormalities Prominent nasal bridge Craniofacial Abnormalities Protein in the urine Proteinuria Protruding tongue Macroglossia Pseudogout Chondrocalcinosis Pseudomonas colonization Pseudomonas Infections Pseudoosteoarthritis Osteoarthritis, knee Psychomotor retardation Psychomotor Disorders Psychosis Psychotic Disorders Ptosis Blepharoptosis Pulmonary blebs Lung Diseases Pulmonary hypoplasia Lung Diseases Pulmonary insufficiency Pulmonary Valve Insufficiency Pulmonary Valve atresia Pulmonary Atresia Punctate epiphysis Chondrodysplasia Punctata Quadriparesis Quadriplegia Rapid respiratory rate Hyperventilation Rash Exanthema Raynaud's phenomenon Raynaud Disease Rectal bleeding Gastrointestinal hemorrhage Recurrent acute otitis Otitis Recurrent emesis Vomiting Recurrent episodes of liver failure Liver Failure Recurrent epistaxis Epistaxis Recurrent joint subluxation Joint instability Recurrent or incisional hernia Hernia Recurrent pneumonia Pneumonia Recurrent respiratory infections Respiratory Tract Infections Red blood cell deficiency Anemia Red coloration Exanthema Reddened patches on the skin Exanthema Redness Skin Manifestations Reduced energy expenditure Metabolism, Inborn Errors Reduced respiratory function Respiratory Insufficiency Supplemental tables 15

Reduced tendon reflexes Reflex, Abnormal Reduced visual acuity Vision disorders Renal abnormalities Kidney Failure Renal agenesis Urogenital Abnormalities Renal cystic dysplasia Kidney Failure Renal dysplasia Multicystic Dysplastic Kidney Renal failure Kidney Failure Renal function impairment Kidney Failure Repeated focal pressure neuropathy Hereditary Motor and Sensory Neuropathies Repetitive movements Stereotyped Behavior Resistence to colchicine Colchicine Respiratory difficulties Respiratory Insufficiency Respiratory distress Respiratory Insufficiency Respiratory problems Respiratory Insufficiency Restless Psychomotor Agitation Restricted, stereotyped and repetitive behavior Stereotyped Behavior Restrictive lung disease Lung Diseases Retinal albinism Albinism, Ocular Retinal atrophy Retinal Degeneration Retinal colobomas Coloboma Retinal dystrophy Retinal Degeneration Retrognathia Retrognathism Rett's Syndrome Rett Syndrome Rheumatiod arthritis Rheumatic Fever Right upper quadrant abdominal pain Abdominal pain Rigidity Muscle Rigidity Ring scotomata Scotoma Rocker-bottom feet Foot Deformities, congenital Rocking Stereotypic Movement Disorder Rough tooth surface Tooth Abnormalities Round face Craniofacial Abnormalities Round facies Facies Sacral agenesis Spinal Diseases Scapular winging Musculoskeletal Abnormalities Sciatic notch spur Sciatic Neuropathy Sclerocornea Corneal Opacity Sclerotic calvarium Skull base neoplasms Sclerotic skull base Sclerosis Scrotal hypoplasia Genital Diseases, Male Self injurious behavior Self-Injurious Behavior Self-injurious stereotyped movements Self-Injurious Behavior Sensations of numbness Hypesthesia Sensorineural Deafness Hearing loss, sensorineural Sensorineural hearing loss Hearing Loss, Sensorineural Sensory abnormalities Sensation Disorders Sensory ataxia Ataxia Sensory loss Ataxia Septal defects Heart Septal Defects Severe CNS defects Central Nervous System Diseases Severe developmental delay Developmental Disabilities Severe photosensitivity Photosensitivity Disorders Sexual difficulties Sexual Dysfunctions, Psychological Short bifid sternum Bone diseases, Developmental Short Fibulae Lower Extremity Deformities, Congenital Short limbs Limb Deformities, Congenital Short long bones Bone Diseases Short metacarpals Limb Deformities, Congenital Short metatarsal Limb Deformities, Congenital Short nasal septum Nasal Septum Short neck Musculoskeletal Abnormalities Short of breath Dyspnea Short palpebral fissures Eyelid Diseases Short phalanges Limb Deformities, Congenital Short stature Dwarfism Short thumbs Hand Deformities, Congenital Short toes Foot Deformities, congenital Short ulnae Upper Extremity Deformities, Congenital Supplemental tables 16

Short, horizontal ribs Musculoskeletal Abnormalities Shortened metacarpals (hand and foot) Limb Deformities, Congenital Shortened phalanges (hand and foot) Limb Deformities, Congenital Shortness of breath Dyspnea Shoulder girdle muscle weakness Muscle Weakness Shrill screaming Voice disorders Single kidney Urogenital Abnormalities Skeletal abnormalities Musculoskeletal Abnormalities Skeletal back pain Back Pain Skeletal dysmorphic features Musculoskeletal Abnormalities Skeletal malformations Musculoskeletal Abnormalities Skin atrophy Atrophy Skin rash Exanthema Skin rashes Exanthema Skin spots Hyperpigmentation Skull abnormalities Craniofacial Abnormalities Sleep apnea syndrome Sleep Apnea Syndromes Sleep disturbances Behavioral Symptoms Slow growth Failure to thrive Small but otherwise normal eye Microphthalmos Small fingernails Nails, Malformed Small pelvis Musculoskeletal Abnormalities Small penis Urogenital Abnormalities Small teeth Tooth Abnormalities Small, wide mouth Microstomia Small-appearing mouth Microstomia Soft calvaria Craniofacial Abnormalities Soft voice Voice Disorders Spastic diplegia Cerebral Palsy Spastic gait Gait Disorders, Neurologic Spastic pyramidal symptoms Muscle Spasticity Spastic quadriplegia Quadriplegia Spastic tetraplegia Quadriplegia Spasticity Muscle Spasticity Spatial visualization aptitude Vision Disorders Special, on itself standing, competence: calculating Child, Gifted Special, on itself standing, competence: drawing Child, Gifted Special, on itself standing, competence: memory Child, Gifted Special, on itself standing, competence: music Child, Gifted Special, on itself standing, competence: reading Child, Gifted Special, on itself standing, competence: visuospatial skills Child, Gifted Speech articulation problems Articulation Disorders Speech defect Language Development Disorders Speech delay Language Development Disorders Speech developmental delay Language Development Disorders Speech impairments Language Development Disorders Speech problems Speech Disorders Sphincter disturbances Muscle Hypertonia Spina bifida Spinal Dysraphism Spinning Stereotypic Movement Disorder Splayed labia majora Vulvar diseases Spongiosis Dermatitis Spontaneous pneumothorax Pneumothorax Squint/paresis of ocular muscles Ocular Motility Disorders Staring spells Consciousness Disorders Static Hemeralopia Vision Disorders Stature Body Height Steppage gait Gait Disorders, Neurologic Stereotyped Language use Stereotyped Behavior Sterility/Hypofertility Infertility Stiff-legged walking style Psychomotor Disorders Stippled or fragmented epiphyses Chondrodysplasia Punctata Stools narrower than usual Fecal Impaction Stria Skin Manifestations Striae distensae Skin Manifestations Stroke Cerebrovascular Accident Subacute necrotising encephalomyelopathy Leigh Disease Supplemental tables 17

Subacute progressive viral hepatitis Hepatitis, Viral, Human Subcutaneous ossifications Ossification, Heterotopic Succinate coenzyme Q reductase Electron Transport Complex II Sun sensitivity Photosensitivity Disorders Swallowing difficulties Deglutition Disorders Swallowing difficulty Deglutition Disorders Sweat chloride elevation Chlorides Swelling in neck Thyroid Neoplasms Swelling in the lymph nodes Leukemia, Lymphocytic Swelling of joints Joint Diseases Swelling/Redness at site of bone pain Contusions Symptoms of phlebitis Phlebitis Synophris Hair Diseases Systemic Lupus erythematosus Lupus Erythematosus, Systemic Tachypnea Sleep Disorders Talipes Clubfoot Talipes calcaneovalgus Foot Deformities Tanning Skin abnormalities Tantrums Aggression Tapered digits Limb Deformities, Congenital Teeth malalignment Malocclusion Telangiectasia Telangiectasis Telecanthus Hypertelorism Telescoped femur Lower Extremity Deformities, Congenital Temperature instability Body Temperature Changes Tenderness Wasting Syndrome Tenesmus Abdominal pain Testicular atrophy Atrophy Tetraplegia Quadriplegia Thick cerebral cortex Nervous System Malformations Thick eyelids Eyelid Diseases Thick lips Lip Diseases Thick nasal septum Nasal Septum Thick skin Skin abnormalities Thick, everted lower lip Lip Diseases Thick, viscous saliva Salivary Gland Diseases Thickened calvarium Craniofacial Abnormalities Thin and small in stature Thinness Thin enamel Dental Enamel Hypoplasia Thin skin Skin Abnormalities Thin upper lip Lip Diseases Thin, velvety skin Ehlers-Danlos Syndrome Thoracolumbar gibbus Bone diseases, Developmental Thoughts becoming disjointed and jumbled Schizophrenia and Disorders with Psychotic Features Thumb anomalies (other than hypoplasia) Hand Deformities, acquired Thymic hypoplasia Thymus Neoplasms Thyroid carcinoma Carcinoma Tightness in joints Ankylosis Tingling numbness in legs Hypesthesia Tiredness Fatigue Tone not changing with age Skin abnormalities Tongue hamartoma Tongue Neoplasms Transposition of the great arteries Aortic Diseases Transverse palmar creases Hand Deformities, Congenital Tremors of the hands Tremor Triangular face Craniofacial Abnormalities Trichodiscomas Hair Diseases Trident acetabular roofs Musculoskeletal Abnormalities Tritanopia Color Vision Defects Truncus Arteriosus Aortic Diseases Truncus arteriosus communis Aortic Diseases Turner's syndrome Turner Syndrome Turribrachycephaly Craniosynostoses Turricephaly Craniosynostoses Ulcerative colitis Colitis, Ulcerative Umbilical hernia Hernia, Umbilical Unable to understand others' emotional state Social Behavior Disorders Supplemental tables 18

Unaware of other's 'personal space' Reactive Attachment Disorder Unaware of Social Rules Social Behavior Disorders Undersensitivity to pain Hypesthesia Uneven fine motor skills Motor Skills Disorders Uneven gross motor skills Motor Skills Disorders Unilateral renal agenesis Kidney diseases Untreated phenylketonuria Phenylketonurias Unusual facial characteristics Craniofacial Abnormalities Unusual preoccupations or a narrow range of interests Obsessive Behavior Unusual reactions to sensual stimuli Perceptual Disorders Unusual sensual interests Sensation Disorders Unusual thirst Thirst Unusually large platelets Blood Platelet Disorders Upslanting palpebral fissures Eyelid Diseases Ureteral Abnormalities Ureteral Diseases Ureterohydronephrosis Hydronephrosis Urinary urgency Urologic Diseases Urologic Abnormality Urologic Diseases Valvular heart disease Heart Valve Diseases Vas deferens aplasia Genital Diseases, Male Vascular hypertension Hypertension, Renovascular Ventricular dilatation Ventricular Dysfunction Ventricular septal defect Heart Septal Defects, Ventricular Ventriculomegaly Heart Septal Defects, Ventricular Verbal Rituals Ceremonial Behavior Vestibular function defect Vestibular Diseases Vision abnormalities Vision disorders Vision disturbances Vision disorders Visual compromise Vision, Low Visual field defects Amblyopia Visual impairment Vision, Low Visual loss Vision Disorders Vitamin D-resistant rickets Hypophosphatemia, Familial Vocal tics Tics Walking on tiptoes Psychomotor disorders Weakness Muscle Weakness Weakness of hip and ankle flexion Musculoskeletal Abnormalities Wheeze Respiratory Sounds Wheezing Respiratory Sounds White blood cell deficiency Leukopenia White skin at birth Hypopigmentation Widely spaced teeth Malocclusion Widened metaphyses Bone Diseases Wide-spaced teeth Malocclusion Wilson's disease Hepatolenticular Degeneration Window's peak Hair Diseases Wormian bones Osteogenesis Imperfecta Writer's cramp Dystonic Disorders Supplemental tables 19

Supplementary table 2. Analysis of over-represented symptoms mentioned in at least four loci, solely relying upon mappings as provided by MeSH, without excluding known autism and Asperger syndromes.

MeSH number MeSH description # Mentioned in Empiric P- different value syndromes in 13 CROIs 1. C17.800 Skin diseases 13 0.00529947 2. C05.660.207 Craniofacial abnormalities 13 0.00789921 3. A17.360 Hair 12 0.01009899 4. C05.660 Musculoskeletal abnormalities 13 0.01049895 5. C23.888.885 Skin manifestations 10 0.01329867 6. C05.116.198.579 Osteoporosis 8 0.01589841 7. C05.660.207.620 Microcephaly 11 0.01609839 8. C13.371.852 Uterine diseases 4 0.02129787 9. C05.660.585 Limb deformities, congenital 7 0.02459754 10. C18.452.950.565 Hypokalemia 4 0.02679732 11. C17.800.946 Sweat gland diseases 4 0.03019698 12. A04.623.557 Nasopharynx 6 0.03259674 13. A05.810 Urinary tract 9 0.04169583 14. A05 Urogenital system 9 0.04219578 15. C10.597.617 Pain 4 0.04319568 16. C05.116.099.370 Dysostosis 10 0.04439556 17. C05.116.099 Bone diseases, developmental 11 0.04459554 18. C05.116.198 Bone diseases, metabolic 8 0.04629537 19. C16.131 Abnormalities 13 0.04759524 Supplemental tables 20

Supplementary table 3. Analysis of over-represented symptoms mentioned in at least four loci, relying both upon mappings provided by MeSH and manual curation, without excluding known autism and Asperger syndromes.

MeSH number MeSH description # Mentioned in Empiric P- different value syndromes in 13 CROIs 1. C13.371.852 Uterine diseases 5 0.00369963 2. C23.888.885 Skin manifestations 11 0.00379962 3. C07.793.494 Malocclusion 6 0.00649935 4. F03.550.300 Child behavior disorders 4 0.01009899 5. A17.360 Hair 12 0.01169883 6. C23.550.291.812 Facies 8 0.01239876 7. C05.660.207.620 Microcephaly 11 0.01569843 8. A14.521.658 Palate 8 0.01579842 9. C23.300.175 Calculi 4 0.01769823 10. C07.650 Stomatognathic system abnormalities 13 0.01989801 11. C17.800 Skin diseases 13 0.0209979 12. C17 Skin and connective tissue diseases 13 0.02279772 13. C19.391.482 Hypogonadism 6 0.02439756 14. C10.597.617 Pain 6 0.02449755 15. C10.597.606.150.500.550 Language development disorders 7 0.02489751 16. C13.371 Genital diseases, female 10 0.02679732 17. C05.116.099.343 Dwarfism 12 0.02779722 18. C18.452.950.565 Hypokalemia 4 0.02909709 19. C05.116.099 Bone diseases, developmental 13 0.02979702 20. C17.800.946 Sweat gland diseases 4 0.0309969 21. C05.116.198.579 Osteoporosis 8 0.03159684 22. C06.130.564 Gallbladder diseases 4 0.03249675 23. C05.500.460 Jaw abnormalities 11 0.03259674 24. C05.660.207 Craniofacial abnormalities 13 0.03267673 25. C10.292 Cranial nerve diseases 13 0.03479652 26. A04.623.557 Nasopharynx 6 0.03559644 27. C10.228.140.490.631 Seizures 13 0.04149585 28. C04.588 Neoplasms by site 8 0.04209579 29. C06.405.469 Intestinal diseases 9 0.04439556 30. C10.228.140.490 Epilepsy 13 0.04469553 31. A05.810 Urinary tract 9 0.04489551 32. A05 Urogenital system 9 0.04509549 33. C05.116.099.370.894 Synostosis 7 0.04649535 34. C16.131.831 Skin abnormalities 8 0.04679532 35. C15.378.100.802 Purpura 4 0.0479952 36. C17.800.329 Hair diseases 8 0.04889511 37. C06.405.469.158 Colonic diseases 6 0.04939506