Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

general transcription factor II I repeat domain-containing 1
GTF3,  BEN,  Cream1,  ESTM9,  binding factor for early enhancer,  MusTRD1,  WBSCR11

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Gtf2ird1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Gtf2ird1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Williams Syndrome
Long philtrum, Failure to thrive in infancy, Open bite, Everted lower lip vermilion, Microdontia,... ORPHA:904

The table below shows human diseases predicted to be associated to Gtf2ird1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Severe Primary Trimethylaminuria
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression ORPHA:468726
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Anxiety, Deficit in phonologic short-term memory, Emotional lability, Depre... ORPHA:280397
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated hepatic transaminase OMIM:606664
Maxillonasal Dysplasia, Binder Type
Short columella, Depressed nasal bridge, Short nose, Dental malocclusion OMIM:155050
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impa... ORPHA:88661
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Sagliker Syndrome
Anxiety, Short stature, Elevated circulating parathyroid hormone level, Depression, Waddling gait ORPHA:300493
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Long philtrum, Short nose OMIM:218010
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Persistent Idiopathic Facial Pain
Somatic sensory dysfunction, Anxiety, Impaired pain sensation, Paresthesia, Depression ORPHA:398147
Primary Condylar Hyperplasia
Macrodontia, Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Abno... ORPHA:477781
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth OMIM:119540
17Q21.31 Microduplication Syndrome
High palate, Short philtrum, Micrognathia, Failure to thrive, Malar flattening, Abnormality of th... ORPHA:217340
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly ORPHA:294
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology OMIM:612529
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... ORPHA:99798
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dolichocephaly, Micrognathia, Dandy-Walker malformation, Frontal bossing, Orbital craniosynostosi... ORPHA:1538
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Periapical bone loss, Denti... OMIM:125500
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Microdontia, Anterior open-bite malocclusion, Enamel hypoplasia OMIM:301200
Florid Cemento-Osseous Dysplasia
Abnormality of the maxilla, Abnormality of primary teeth, Jaw swelling, Supernumerary tooth, Abno... ORPHA:83451
Anteverted nares, Short nose, Thin vermilion border OMIM:180360
Rubinstein-Taybi Syndrome 2
High palate, Carious teeth, Convex nasal ridge, Micrognathia, Increased overbite, Retrognathia, D... OMIM:613684
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Thin upper lip vermilion, Anteverted nares, Cleft palate, Short nose ORPHA:2015
Rhabdoid Tumor Predisposition Syndrome 2
Carcinoma, Neoplasm of the central nervous system OMIM:613325
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Fryns Microphthalmia Syndrome
Neural tube defect, Facial cleft OMIM:600776
Auriculocondylar Syndrome 2
Narrow mouth, Micrognathia, Dental crowding, Glossoptosis, Mandibular condyle hypoplasia, Mandibu... OMIM:614669
Mcdonough Syndrome
Short philtrum, Abnormal palate morphology, Open bite, Underdeveloped nasal alae, Micrognathia, C... ORPHA:2471
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Malar flattening, Dental malocclusion, Widely spaced teeth OMIM:616108
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Failure to thrive in infancy, Self-injurious behavior, Anxiety, Obesity, Aggress... OMIM:613670
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Anteverted nares, Short nose ORPHA:1355
Mental Retardation, X-Linked 91
Macrodontia, High palate, Obesity, Short nose OMIM:300577
Megalencephaly, Autosomal Dominant
Macrocephaly, Hydrocephalus OMIM:155350
Huntington Disease
Dystonia, Aggressive behavior, Apathy, Decreased body mass index, Polyphagia, Depression, Disinhi... ORPHA:399
Huntington Disease-Like 2
Action tremor, Dystonia, Anxiety, Dementia, Bradykinesia, Apathy, Irritability, Chorea, Depressio... OMIM:606438
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Cleft Lip/Palate
Abnormal number of permanent teeth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral in... ORPHA:199306
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Holoprosencephaly, Ventricular septal defect, Facial cleft OMIM:601357
Macrocephaly, Acquired, With Impaired Intellectual Development
Anxiety, Anteverted nares, Aggressive behavior, Narrow nasal bridge OMIM:618286
Regional Odontodysplasia
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... ORPHA:83450
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Cognitive impairment, Dystonia, Memory impairment, Anxiety, Inappropriate behavior, Ataxia, Chore... ORPHA:401901
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Abnormal vertebral morphology, Microcephaly, Hydrocephalus, Macrocephaly OMIM:618709
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short stepped shuffling gait, Memory impairment, Shuffling gait, Inertia, Anxiety, Dementia, Moto... ORPHA:412066
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis OMIM:614480
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Abnormality of the dentition, Cleft soft palate, Micrognathia, Depressed nasal bri... OMIM:616331
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Macrocephaly, Ventriculomegaly, Hydrocephalus OMIM:615938
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Spinocerebellar Ataxia 48
Dysmetria, Dystonia, Anxiety, Mental deterioration, Ataxia, Gait ataxia, Irritability, Dysphagia,... OMIM:618093
Dystonia 12
Dystonia, Anxiety, Bradykinesia, Unsteady gait, Emotional lability, Dysphagia, Torticollis, Depre... OMIM:128235
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Anterior open-bite malocclusion... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Hypocalcification of dental enamel, Amelogenesis imperfecta, Anterior open-bite malocclusion, Yel... OMIM:618386
Alexander Disease
Increased CSF protein, Progressive macrocephaly, Hydrocephalus OMIM:203450
Baker-Gordon Syndrome
Dystonia, Choreoathetosis, Self-injurious behavior, Inability to walk, Ataxia, Prominent nasal ti... OMIM:618218
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Burn-Mckeown Syndrome
Abnormal palate morphology, Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge,... ORPHA:1200
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
Mental Retardation, Buenos Aires Type
High palate, Carious teeth, Wide nasal bridge, Failure to thrive, Mandibular prognathia, Thin upp... OMIM:249630
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Depressed nasal bridge, Retrognathia, Anteverted nares, Short nose OMIM:614069
Masa Syndrome
Kyphosis, Hyperlordosis, Ventriculomegaly, Microcephaly, Short stature, Hydrocephalus, Macrocephaly OMIM:303350
Geniospasm 1
Anxiety OMIM:190100
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Short stature, Abdominal obesity, Truncal obesity OMIM:618160
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Anxiety, Bradykinesia, Craniofacial dystonia, Limb dystonia, Gait ataxia, Emotion... ORPHA:71517
Fetal Valproate Spectrum Disorder
Narrow mouth, Long philtrum, Depressed nasal ridge, Thin vermilion border, Downturned corners of ... ORPHA:1906
Creutzfeldt-Jakob Disease
Memory impairment, Anxiety, Dementia, Gait ataxia, Apathy, Irritability, Depression OMIM:123400
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology ORPHA:3032
Neonatal short-limb short stature, Genu varum, Spinal stenosis with reduced interpedicular distan... OMIM:100800
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Gingival fibromatosis, Micrognathia, Mandibular aplasia, Retrognathia, Med... ORPHA:1832
Childhood Disintegrative Disorder
Impaired social interactions, Progressive language deterioration, Anxiety, Dementia, Motor deteri... ORPHA:168782
Adenylosuccinate Lyase Deficiency
Long philtrum, Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Short nose ORPHA:46
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Anxiety, Poor eye contact, Failure to thrive, Tremor OMIM:619651
Maxillonasal Dysplasia
Depressed nasal ridge, Open bite, Microdontia, Tooth agenesis, Hypoplasia of the maxilla, Depress... ORPHA:1248
Intellectual Developmental Disorder, X-Linked 58
Short philtrum, Dental malocclusion OMIM:300210
Midline facial cleft, Encephalocele ORPHA:3374
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Macrocephaly, Ventriculomegaly, Hydrocephalus OMIM:615937
Idiopathic Congenital Hypothyroidism
Lethargy, Macroglossia, Decreased circulating T4 level, Elevated circulating thyroid-stimulating ... ORPHA:95717
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Sagittal craniosynostosis, Hydrocephalus OMIM:123155
Melanoma-Pancreatic Cancer Syndrome
Squamous cell carcinoma, Sarcoma, Melanoma, Oropharyngeal squamous cell carcinoma, Pancreatic ade... OMIM:606719
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Craniosynostosis, Short neck, Dolichocephaly, Sacral dimple, Micrognathia, Frontal bossing, Short... ORPHA:1516
Oculodentodigital Dysplasia, Autosomal Recessive
Narrow mouth, Long nose, Long philtrum, Underdeveloped nasal alae, Delayed eruption of teeth, Nar... OMIM:257850
Tyrosinemia Type 1
Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Wolfram-Like Syndrome, Autosomal Dominant
Anxiety, Depression, Diabetes mellitus OMIM:614296
Gómez-López-Hernández Syndrome
Midface retrusion, Short stature, Toenail dysplasia, Turricephaly, Brachycephaly, Hydrocephalus, ... ORPHA:1532
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Refractory anemia with ringed sider... OMIM:133180
Potocki-Lupski Syndrome
High palate, Small for gestational age, Oral-pharyngeal dysphagia, Micrognathia, Failure to thriv... OMIM:610883
Spinocerebellar Ataxia 12
Dysmetria, Action tremor, Axial dystonia, Anxiety, Dementia, Head tremor, Progressive cerebellar ... OMIM:604326
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus, Abnormal eyelash morphology, Sparse body hair, Alopecia universalis, Sparse scalp ... ORPHA:1008
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly OMIM:615158
Alazami Syndrome
Decreased body weight, Severe short stature, Anxiety, Wide nasal bridge, Depressed nasal bridge, ... OMIM:615071
Mulibrey Nanism
Hypoplastic frontal sinuses, Enamel hypoplasia, Hypodontia, Wide nasal bridge, Microglossia, Abse... OMIM:253250
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation, Paresthesia OMIM:615361
Parastremmatic Dwarfism
Short neck, Kyphosis, Severe short stature, Scoliosis, Genu valgum OMIM:168400
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Wolfram-Like Syndrome
Central diabetes insipidus, Primary gonadal insufficiency, Hypothyroidism, Severe postnatal growt... ORPHA:411590
Migraine, Familial Hemiplegic, 1
Anxiety, Ataxia, Tremor OMIM:141500
14Q11.2 Microdeletion Syndrome
Narrow mouth, High palate, Long philtrum, Everted lower lip vermilion, Deep philtrum, Exaggerated... ORPHA:261120
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Wormian bones, Kyphosis, Coronal craniosynostosis, Platyspondyly, Mi... OMIM:616294
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Shuffling gait, Abnormal aggressive, impulsive or violent behavior, Obesity, Aggr... ORPHA:3077
Cloverleaf skull, Elbow ankylosis, Craniosynostosis, Hydrocephalus OMIM:148800
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Chorea, Benign Hereditary
Anxiety, Chorea, Gait disturbance OMIM:118700
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Kyphosis, Dolichocephaly, Abnormal form of the vertebral bodies, Vertebra... ORPHA:40
Ring Chromosome 8 Syndrome
Abnormal palate morphology, Anteverted nares, Short nose ORPHA:1450
Auriculocondylar Syndrome 1
Narrow mouth, Impaired mastication, Micrognathia, Dental crowding, Anterior open-bite malocclusio... OMIM:602483
Huntington Disease-Like 1
Dysmetria, Anxiety, Dementia, Aggressive behavior, Unsteady gait, Chorea, Depression OMIM:603218
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatic cysts, Hepatomegaly OMIM:617004
Lambert Syndrome
Branchial anomaly, Intrauterine growth retardation, Ventricular septal defect ORPHA:1296
Diabetes Insipidus, Neurohypophyseal
Wide nose, Long philtrum, Short nose OMIM:125700
Camptodactyly Syndrome, Guadalajara Type 1
Narrow mouth, High palate, Open bite, Abnormality of dental eruption, Depressed nasal bridge, Man... ORPHA:1327
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
High palate, Dental malocclusion, Dysphagia, Mandibular prognathia OMIM:608931
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity, Hypomimic face OMIM:608443
Facial Paresis, Hereditary Congenital, 3
Micrognathia, Depressed nasal bridge, Dysphagia, Smooth philtrum, Anteverted nares, Downturned co... OMIM:614744
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short philtrum, Everted lower lip vermilion, Truncal obesity, Mandibular prognathia, Thin upper l... ORPHA:2429
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Anxiety, Aggressive behavior, Gait ataxia, Failure to thrive, Prominen... OMIM:609425
Combined Oxidative Phosphorylation Deficiency 25
Long philtrum, Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Short nose OMIM:616430
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion, Prominent nose OMIM:615541
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Congenital hip dislocation, Ventriculomegaly, Micrognathia, Midface retrusion, Scoliosi... OMIM:618291
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly ORPHA:46532
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Irritability, Short nose, Failure to thrive OMIM:618379
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Reduced radioactive iodine uptake, Congenital hypothyroidism... ORPHA:95716
Dystonia 11, Myoclonic
Anxiety, Agoraphobia, Torticollis, Depression, Writer's cramp, Tremor OMIM:159900
Myoclonus-Dystonia Syndrome
Dystonia, Anxiety, Panic attack, Personality disorder, Torticollis, Depression, Writer's cramp ORPHA:36899
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormal palate morphology, Long philtrum, Microretrognathia, Cachexia, Short nose ORPHA:1389
Frontal Encephalocele
Dolichocephaly, Calvarial skull defect, Spina bifida, Hydrocephalus, Macrocephaly, Encephalocele ORPHA:1931
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Short stature, Ataxia OMIM:616113
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Absent ankle pulse, Myocardial infarction, Abnormality of venous p... ORPHA:90064
Microcephaly, Seizures, And Developmental Delay
Simplified gyral pattern, Hyperactivity, Ataxia, Skeletal muscle atrophy OMIM:613402
Atypical Teratoid Rhabdoid Tumor
Macrocephaly, Hydrocephalus ORPHA:99966
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Unilambdoid synostosis, Long eyelashes, Ventriculomegaly, Micrognathia, Midface re... OMIM:618577
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Tonne-Kalscheuer Syndrome
Self-injurious behavior, Anxiety, Wide nasal bridge, Growth delay, Aggressive behavior, Shyness, ... OMIM:300978
Knee joint hypermobility, Kyphosis, Cervical spinal canal stenosis, Hip joint hypermobility, Rhiz... ORPHA:15
Clark-Baraitser Syndrome
High palate, Long philtrum, Obesity, Depressed nasal bridge, Downturned corners of mouth, Short n... OMIM:617752
Parkinsonism-Dystonia 3, Childhood-Onset
Impaired social interactions, Action tremor, Dystonia, Anxiety, Ataxia, Aggressive behavior, Grow... OMIM:619738
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Broad columella, Underdeveloped nasal alae, Micrognathia, Malar flattening, Dental malocclusion, ... ORPHA:436245
Melanocytic Nevus Syndrome, Congenital
Narrow nasal ridge, Broad nasal tip, Long philtrum, Open mouth, Everted lower lip vermilion, Deep... OMIM:137550
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Happy demeanor, Broad columella, Unsteady gait, Depressed nasal bridge, Failure to thrive, Broad-... OMIM:617865
Anophthalmia Plus Syndrome
Spina bifida, Facial cleft ORPHA:1104
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Greig Cephalopolysyndactyly Syndrome
Trigonocephaly, Craniosynostosis, Dolichocephaly, Ventriculomegaly, Metopic synostosis, Frontal b... OMIM:175700
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Open bite, Craniofacial hyperostosis, Widely spaced teeth, Macroglossia, Depressed nasal bridge, ... ORPHA:61
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Macrocephaly, Ventriculomegaly OMIM:611808
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Generalized amyotrophy, Lethargy, Hypothermia OMIM:610006
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Non-Distal Trisomy 10Q
High palate, Everted lower lip vermilion, Convex nasal ridge, Micrognathia, Depressed nasal bridg... ORPHA:1695
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening, Short nose OMIM:122880
Developmental And Epileptic Encephalopathy 78
Inability to walk, Chorea, Hypothermia OMIM:618557
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Anxiety, Mental deterioration, Ataxia, Depression, Difficulty walking OMIM:619191
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysmetria, Intention tremor, Anxiety, Wide nasal bridge, Ataxia, Aggressive behavior, Failure to ... OMIM:618356
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Widely spaced teeth, Increased overbite OMIM:617297
Fanconi Anemia, Complementation Group S
Anteverted nares, Thick upper lip vermilion, Failure to thrive, Prominent nasal bridge, Macrodont... OMIM:617883
Hemoglobin H Disease
Splenomegaly, Hepatomegaly OMIM:613978
Spontaneous Periodic Hypothermia
Gait disturbance, Ataxia, Hypothermia ORPHA:29822
Rhizomelic Syndrome, Urbach Type
Short neck, Kyphosis, Abnormal form of the vertebral bodies, Rhizomelia, Micrognathia, Microcepha... ORPHA:3098
Intellectual Disability And Myopathy Syndrome
Broad nasal tip, Widely-spaced maxillary central incisors, Thin upper lip vermilion, Dental maloc... OMIM:619719
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Fatty Acyl-Coa Reductase 1 Deficiency
Long philtrum, Depressed nasal bridge, Smooth philtrum, Thin upper lip vermilion, Short nose ORPHA:438178
Abnormal fear/anxiety-related behavior, Emotional lability, Irritability, Separation insecurity, ... ORPHA:66624
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly OMIM:606445
Paresthesia, Anxiety, Recurrent pharyngitis, Depression ORPHA:770
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Blepharophimosis-Impaired Intellectual Development Syndrome
Narrow nasal ridge, Short philtrum, Drooling, Underdeveloped nasal alae, Enamel hypoplasia, Widel... OMIM:619293
Raynaud-Claes Syndrome
Anxiety, Aggressive behavior, Progressive cerebellar ataxia, Mandibular prognathia, Bipolar affec... OMIM:300114
Chung-Jansen Syndrome
Anxiety, Obesity, Aggressive behavior, Micrognathia, Impulsivity, Anteverted nares, Short nose OMIM:617991
Basal Ganglia Calcification, Idiopathic, 5
Cognitive impairment, Anxiety, Dementia, Apathy, Depression OMIM:615483
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Vertebral compression fracture, Coronal craniosynostosis, Micrognath... OMIM:112240
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Narrow palate, Delayed eruption of teeth, Supernumerary tooth, Micrognathia, Failure... OMIM:264475
Fanconi Anemia, Complementation Group R
Microcephaly, Growth delay, Hydrocephalus OMIM:617244
Developmental And Epileptic Encephalopathy 49
Long eyelashes, Ventriculomegaly, Microcephaly, Frontal bossing, Dandy-Walker malformation, Hydro... OMIM:617281
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, High, narrow palate OMIM:619692
Xq28 (MECP2) duplication
Anxiety, Inability to walk, Gait ataxia, Depressed nasal bridge, Failure to thrive, Malar flatten... DECIPHER:45
Acrootoocular Syndrome
Choking episodes, Delayed eruption of teeth, Small for gestational age, Supernumerary tooth, Micr... ORPHA:2980
Riboflavin Deficiency
Lethargy, Hypothermia OMIM:615026
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Brachyolmia Type 1, Hobaek Type
Kyphosis, Short neck, Intervertebral space narrowing, Disproportionate short-trunk short stature,... OMIM:271530
Early-Onset Schizophrenia
Suicidal ideation, Lack of peer relationships, Cognitive impairment, No social interaction, Unhap... ORPHA:96369
Three M Syndrome 2
High palate, Anteverted nares, Long philtrum, Small for gestational age, Delayed eruption of teet... OMIM:612921
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Abnormality of the dentition, Dental malocclusion, Mandibular prognathia ORPHA:1858
Band Heterotopia
Macrocephaly, Ventriculomegaly, Hydrocephalus OMIM:600348
Increased CSF protein, Hydrocephalus ORPHA:251912
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Depressed nasal bridge, Dysphagia, Short nose, Micrognathia OMIM:617802
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Kyphoscoliosis, Thoracolumbar kyphosis, Hydrocephalus OMIM:236660
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Facial cleft OMIM:607597
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Hepatomegaly OMIM:607685
Dopa-Responsive Dystonia
Dystonia, Generalized dystonia, Abnormal social behavior, Oculogyric crisis, Anxiety, Inability t... ORPHA:255
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Severe short stature, Rhizomelia, Platyspondyly, Midface retrusion, Disproportionate sh... OMIM:616482
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Congenital hypothyroidism, Macroglossia, Decreased circulating T4 leve... ORPHA:226313
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Microcephaly, Short stature, Scoliosis, Hirsutism, Hip dislocation OMIM:300434
Beaulieu-Boycott-Innes Syndrome
Long nose, Carious teeth, Low hanging columella, Dental malocclusion OMIM:613680
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Midface retrusion, Brachycephaly, Hydrocephalus, Melanocytic nevus OMIM:612247
Holoprosencephaly 5
Semilobar holoprosencephaly, Trigonocephaly, Lobar holoprosencephaly, Microcephaly, Syntelencepha... OMIM:609637
Mosaic Trisomy 9
Webbed neck, Abnormal heart valve morphology, Intrauterine growth retardation, Patent ductus arte... ORPHA:99776
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Hyperactivity, Hirsutism, Small for gestational age ORPHA:85288
1Q21.1 Microduplication Syndrome
Macrocephaly, Frontal bossing, Hip dislocation, Hydrocephalus ORPHA:250994
Momo Syndrome
High palate, Long philtrum, Delayed eruption of teeth, Obesity, Wide nasal bridge, Thick lower li... OMIM:157980
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Wide nose, Convex nasal ridge, Retrognathia, Large beaked nose, Dental malocclusion, Prominent nose OMIM:601552
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Short philtrum, Depressed nasal bridge, Anteverted nares, Downturned corners of mouth, Short nose OMIM:613443
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Gray matter heterotopia, Simplified gyral pattern, Lissencephaly, Pachygyria, Poly... OMIM:604317
Craniofacial-Deafness-Hand Syndrome
Narrow mouth, Depressed nasal ridge, Aplasia/Hypoplasia involving the nose, Hypoplasia of the max... ORPHA:1529
Retinitis Pigmentosa 42
Pallor OMIM:612943
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Resting tremor, Anxiety, Dementia, Bradykinesia, Depression OMIM:605909
Pierpont Syndrome
Broad nasal tip, Decreased body weight, Everted lower lip vermilion, Widely spaced teeth, Long up... OMIM:602342
Muenke Syndrome
Plagiocephaly, Carpal synostosis, Tarsal synostosis, Hypopigmentation of hair, Hypopigmented skin... ORPHA:53271
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short neck, Absent facial hair, Short stature, Sparse facial hair, Cubitus valgus, Hydrocephalus,... ORPHA:2183
Short Syndrome
Delayed eruption of teeth, Small for gestational age, Underdeveloped nasal alae, Hypodontia, Wide... OMIM:269880
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Reduced radioactive iodine uptake, ... ORPHA:90674
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Kleefstra Syndrome 2
Plagiocephaly, Kyphosis, Thick eyebrow, Growth delay, Midface retrusion, Microcephaly, Scoliosis OMIM:617768
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Delayed closure of the anterior fontanelle, Microcephaly, Dandy-Walk... OMIM:618736
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Macrocephaly, Holopr... OMIM:617967
Permanent Congenital Hypothyroidism
Hypothyroidism, Thyroid dysgenesis, Macroglossia, Goiter, Umbilical hernia, Hypothermia ORPHA:226292
Perry Syndrome
Suicidal ideation, Short stepped shuffling gait, Dystonia, Disinhibition, Anxiety, Bradykinesia, ... OMIM:168605
Cornelia De Lange Syndrome 2
Short neck, Intrauterine growth retardation, Long eyelashes, Thick eyebrow, Ventriculomegaly, Hig... OMIM:300590
Mcdonough Syndrome
Short philtrum, Micrognathia, Furrowed tongue, Mandibular prognathia, Dental malocclusion, Promin... OMIM:248950
Gm2 Gangliosidosis, Ab Variant
Cognitive impairment, Dystonia, Anxiety, Inappropriate behavior, Short stature, Chorea, Exaggerat... ORPHA:309246
Harrod Syndrome
Narrow mouth, Long nose, High palate, High, narrow palate, Failure to thrive, Dental malocclusion OMIM:601095
Temple Syndrome
Relative macrocephaly, Frontal bossing, Short stature, Scoliosis, Hydrocephalus, Postnatal growth... ORPHA:254516
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Hepatitis, Hepatomegaly, Jaundice ORPHA:60
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Deep philtrum, Micrognathia, Failure to thrive, Thin upper lip vermilion, Dental mal... ORPHA:329178
Intellectual Developmental Disorder, X-Linked 98
Impaired social interactions, Self-biting, Long nose, Underdeveloped nasal alae, Central hypothyr... OMIM:300912
Fragile X Tremor/Ataxia Syndrome
Hypothyroidism, Dysmetria, Action tremor, Memory impairment, Resting tremor, Intention tremor, Di... OMIM:300623
Nut Midline Carcinoma
Ewing sarcoma, Squamous cell carcinoma, Leukemia, Neuroblastoma, Neoplasm, Oropharyngeal squamous... ORPHA:443167
Fried Syndrome
Scoliosis, Thickened calvaria, Hydrocephalus ORPHA:85335
Developmental And Epileptic Encephalopathy 36
Microcephaly, Hydrocephalus OMIM:300884
Craniosynostosis 3
Dental malocclusion OMIM:615314
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pierre-Robin sequence, High palate, Long philtrum, Everted lower lip vermilion, Dental crowding, ... OMIM:617877
Frontofacionasal Dysplasia
Short stature, Encephalocele, Facial cleft ORPHA:1791
Temple Syndrome
Intrauterine growth retardation, Relative macrocephaly, Micrognathia, Frontal bossing, Short stat... OMIM:616222
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Peroxisome Biogenesis Disorder 12A (Zellweger)
Delayed closure of the anterior fontanelle, Growth delay, Cranial asymmetry, Microcephaly, Abnorm... OMIM:614886
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Congestive heart failure, Atrial septal defect, Short stature, Ventricular septal... ORPHA:49827
Craniotelencephalic Dysplasia
Craniosynostosis, Frontal encephalocele, Microcephaly, Frontal bossing, Hydrocephalus, Arrhinence... ORPHA:1528
Retinitis Pigmentosa 60
Pallor OMIM:613983
Intellectual Developmental Disorder, Autosomal Recessive 41
Anxiety, Mandibular prognathia, Broad nasal tip, Retrognathia OMIM:615637
Adenylosuccinase Deficiency
Happy demeanor, Opisthotonus, Inability to walk, Growth delay, Aggressive behavior, Poor eye cont... OMIM:103050
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Everted lower lip verm... ORPHA:884
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Recurrent upper respiratory tract infections, Obesity, U-Shaped upper lip vermilion,... OMIM:300209
Intellectual Developmental Disorder, Autosomal Dominant 1
Bulbous nose, Self-injurious behavior, Ataxia, Aggressive behavior, Micrognathia, Short stature, ... OMIM:156200
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Shashi-Pena Syndrome
Kyphosis, Ventriculomegaly, Highly arched eyebrow, Scoliosis, Retrognathia, Macrocephaly OMIM:617190
Thanatophoric Dysplasia
Disproportionate short-limb short stature, Intrauterine growth retardation, Kyphosis, Ventriculom... ORPHA:2655
Retinitis Pigmentosa 81
Pallor OMIM:617871
Osteogenesis Imperfecta, Type Iii
Neonatal short-limb short stature, Decreased calvarial ossification, Wormian bones, Kyphosis, Mic... OMIM:259420
Cutis Laxa, Autosomal Recessive, Type Iib
Intrauterine growth retardation, Congenital hip dislocation, Midface retrusion, Microcephaly, Fro... OMIM:612940
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Long philtrum, Short nose, Micrognathia ORPHA:2598
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616217
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Mandibular prognathia OMIM:619031
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Everted lower lip vermilion, Wide nasal bridge, Thick lower lip vermilion, Micrognathia, Malar fl... ORPHA:85321
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Everted lower lip vermilion, Malar flattening, Concave nasal ridge, Mandibular prognathia, Dental... OMIM:603463
Craniodigital-Intellectual Disability Syndrome
Generalized hirsutism, Long eyelashes, Thick eyebrow, Abnormal hair pattern, Micrognathia, Thick ... ORPHA:1514
Acrofacial Dysostosis, Catania Type
Webbed neck, Intrauterine growth retardation, Short stature, Spina bifida occulta, Facial cleft ORPHA:1786
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Small for gestational age, Short nose OMIM:245570
Jaberi-Elahi Syndrome
Dysmetria, Dystonia, Choreoathetosis, Inability to walk, Gait ataxia, Depressed nasal bridge, Fai... OMIM:617988
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Enamel hypoplasia, Conical tooth, Oligodontia, Microdontia, Thick nasal alae, Wide nasal bridge, ... OMIM:618727
Potocki-Shaffer Syndrome
Short philtrum, Underdeveloped nasal alae, Wide nasal bridge, Downturned corners of mouth, Short ... OMIM:601224
Late-Onset Familial Hypoaldosteronism
Increased circulating renin level, Abnormal circulating corticosterone level, Fever, Decreased ci... ORPHA:556037
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Suicidal ideation, Abnormal fear/anxiety-related behavior, Aggressive behavior, Pseudobulbar para... ORPHA:208441
Crouzon Syndrome
Abnormal sacrum morphology, Hypopigmented skin patches, Multiple suture craniosynostosis, Midface... ORPHA:207
Harrod Syndrome
Narrow mouth, Long nose, High palate, Failure to thrive, Dental malocclusion ORPHA:2115
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Narrow mouth, Pierre-Robin sequence, High palate, Short philtrum, Agenesis of permanent teeth, Lo... ORPHA:251028
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Broad nasal tip, Hypothyroidism, Recurrent upper respiratory tract infections, Anxiety, Prominent... ORPHA:391372
Cole-Carpenter Syndrome
Communicating hydrocephalus, Wormian bones, Kyphosis, Intrauterine growth retardation, Abnormal f... ORPHA:2050
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Portal inflammati... OMIM:603471
Chondrodysplasia With Joint Dislocations, Gpapp Type
Narrow mouth, Wide nasal bridge, Micrognathia, Cleft palate, Short nose OMIM:614078
Odontotrichoungual-Digital-Palmar Syndrome
Natal tooth, Dental malocclusion, Mandibular prognathia, Thick vermilion border OMIM:601957
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormality of the vertebral column, Ventriculomegaly, Hypoplasia of the maxilla, Short stature, ... OMIM:109120
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Anxiety, Obesity, Micrognathia, Poor eye contact, Depressed nasal bridge ORPHA:444002
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus OMIM:166990
Winchester Syndrome
Carpal osteolysis, Hirsutism, Kyphosis, Arthropathy OMIM:277950
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Macroglossia, Depressed nasal bridge, Malar flattening, Anteverted nares, Short nose OMIM:613038
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Kyphosis, Hypopigmentation of the skin, Albinism, Platyspondyly, Short ... ORPHA:2786
Perlman Syndrome
Broad alveolar ridges, Open mouth, Wide nasal bridge, High, narrow palate, Micrognathia, Abnormal... ORPHA:2849
Acromicric Dysplasia
Narrow mouth, Long philtrum, Bulbous nose, Thick lower lip vermilion, Anteverted nares, Short nose ORPHA:969
Gomez-Lopez-Hernandez Syndrome
Cognitive impairment, Self-injurious behavior, Ataxia, Decreased response to growth hormone stimu... OMIM:601853
Medullary Thyroid Carcinoma
Medullary thyroid carcinoma, Neoplasm of the skeletal system, Pheochromocytoma, Neoplasm of the l... ORPHA:1332
Lessel-Kreienkamp Syndrome
Open mouth, Thin upper lip vermilion, Dental malocclusion, Wide nasal bridge OMIM:619149
Peho-Like Syndrome
Open mouth, Short nose, Retrognathia OMIM:617507
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:610293
17P13.3 Microduplication Syndrome
Wide nose, High palate, Narrow mouth, Short nose ORPHA:217385
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Skeletal muscle atrophy, Hypothermia OMIM:245400
Edinburgh Malformation Syndrome
Narrow mouth, Thin vermilion border, Micrognathia, Choanal atresia, Failure to thrive, Anteverted... ORPHA:1895
Ohdo Syndrome
Narrow mouth, Thin vermilion border, Long philtrum, Widely spaced teeth, Wide nasal bridge, Micro... OMIM:249620
Optic Atrophy 9
Pallor OMIM:616289
Craniosynostosis 6
Plagiocephaly, Craniosynostosis, Microcephaly, Dandy-Walker malformation, Scoliosis, Turricephaly... OMIM:616602
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cognitive impairment, Dysmetria, Dystonia, Anxiety, Bradykinesia, Ataxia, Aggressive behavior, Dy... OMIM:615157
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Lethargy, Macroglossia, Decreased circulating T4 ... ORPHA:226316
Smith-Magenis Syndrome
Hypothyroidism, Failure to thrive in infancy, Delayed puberty, Hypercholesterolemia, Self-injurio... ORPHA:819
1Q44 Microdeletion Syndrome
Biparietal narrowing, Growth delay, Ventriculomegaly, Micrognathia, Microcephaly, Frontal bossing... ORPHA:238769
Neural Tube Defects, Susceptibility To
Myelomeningocele, Sacral dimple, Anencephaly, Absence of the sacrum, Asymmetry of spinal facet jo... OMIM:182940
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Microcephaly, Elbow flexion contracture, Small nail, Hydrocephalus OMIM:619470
Intellectual Developmental Disorder, X-Linked 9
Anxiety, Depressed nasal bridge, Aggressive behavior OMIM:309549
Methylmalonate Semialdehyde Dehydrogenase Deficiency
High palate, Dystonia, Long philtrum, Bulbous nose, Tented upper lip vermilion, Depressed nasal b... OMIM:614105
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Sarcoma ORPHA:66661
Silver-Russell Syndrome Due To 11P15 Microduplication
Intrauterine growth retardation, Small for gestational age, Severe intrauterine growth retardatio... ORPHA:231144
Childhood-Onset Benign Chorea With Striatal Involvement
Anxiety, Chorea ORPHA:494541
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Short stature, Prominent nasal bridge, Anteverted nares, Short nose OMIM:300558
Glycogen Storage Disease Vi
Postnatal growth retardation, Failure to thrive in infancy OMIM:232700
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Kyphosis, Severe short stature, Carious teeth, Micrognathia, Microceph... ORPHA:2617
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Bifid uvula, Delayed eruption of teeth, Hypodontia, Depressed nasal bridge, Dental m... OMIM:612350
Intellectual Disability, Buenos-Aires Type
High palate, Open bite, Wide nasal bridge, Abnormality of dental morphology, Mandibular prognathi... ORPHA:3079
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Long nose, Velopharyngeal insufficiency, Thin lower lip vermilion, Carious teeth, Thick upper lip... ORPHA:363444
Hypothyroidism Due To Tsh Receptor Mutations
Reduced radioactive iodine uptake, Impaired sensitivity to thyroid stimulating hormone, Congenita... ORPHA:90673
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Gorlin Syndrome
Vertebral wedging, Carious teeth, Frontal bossing, Scoliosis, Vertebral fusion, Brachycephaly, Hy... ORPHA:377
Pseudodiastrophic Dysplasia
Short neck, Severe short stature, Rhizomelia, Hypoplasia of the odontoid process, Elbow dislocati... OMIM:264180
Xq25 Microduplication Syndrome
Anxiety, Short stature, Malar flattening, Mandibular prognathia ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Anxiety, Short stature, Malar flattening, Mandibular prognathia OMIM:300979
Early-Onset Familial Hypoaldosteronism
Increased circulating renin level, Abnormal circulating corticosterone level, Decreased circulati... ORPHA:556030
Thanatophoric Dysplasia Type 2
Kyphosis, Ventriculomegaly, Platyspondyly, Cloverleaf skull, Frontal bossing, Short stature, Hydr... ORPHA:93274
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal choreoathetosis, Anxiety, Paroxysmal dystonia OMIM:602066
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Elevated circulatin... OMIM:619232
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Anxiety, Depression, Difficulty walking, Ataxia OMIM:619425
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Hypertrichosis, Scoliosis, Mandibular prognathia, Synophrys, Prominent metopic ridge ORPHA:85317
Primary Erythromelalgia
Hypothermia ORPHA:90026
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice OMIM:237800
High palate, Enamel hypoplasia, Hypodontia, Carious teeth, Convex nasal ridge, Overweight, Microg... ORPHA:763
Myopathy, Mitochondrial, And Ataxia
Dysmetria, Anxiety, Inability to walk, Hyperthyroidism, Ataxia, Increased circulating prolactin c... OMIM:617675
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Narrow mouth, Thin vermilion border, Short nose ORPHA:2370
Helsmoortel-Van Der Aa Syndrome
Broad nasal tip, Long philtrum, Obesity, Wide nasal bridge, Everted lower lip vermilion, Widely s... OMIM:615873
Intellectual Developmental Disorder, X-Linked 21
Open mouth, Tented upper lip vermilion, Dental crowding, Mandibular prognathia, Short nose OMIM:300143
Peripheral Cone Dystrophy
Pallor OMIM:609021
Robinow Syndrome, Autosomal Recessive 2
Broad nasal tip, Absent uvula, Long philtrum, Wide nasal bridge, Micrognathia, Abnormality of the... OMIM:618529
Central Diabetes Insipidus
Diabetes insipidus, Anxiety, Lethargy, Failure to thrive, Polydipsia, Depression, Weight loss ORPHA:178029
Leptin Receptor Deficiency
Recurrent upper respiratory tract infections, Delayed puberty, Obesity, Hypergonadotropic hypogon... OMIM:614963
Momo Syndrome
Large for gestational age, High palate, Long philtrum, Delayed eruption of teeth, Obesity, Thick ... ORPHA:2563
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, High palate, Long philtrum, Thin upper lip vermilion, Short nose OMIM:613544
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Shoulder dislocation, Kyphosis, Frontal bossing, Scoliosis, Hydrocephalus, Umbilical hernia ORPHA:2181
Lamb-Shaffer Syndrome
Anxiety, Depressed nasal bridge, Wide nasal bridge, Bulbous nose OMIM:616803
Feingold Syndrome Type 2
Emotional lability, Anxiety, Short stature ORPHA:391646
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Carious teeth, Short ... ORPHA:2701
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Portal hypertension, Periportal fibrosis, Splenomegaly, Jaund... ORPHA:64743
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Broad eyebrow, Microcephaly, Hypoplasia of the maxilla, Synophrys OMIM:618302
Hyperinsulinemia, Anxiety, Pituitary prolactin cell adenoma, Primary hyperparathyroidism, Neoplas... ORPHA:97279
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Acrofacial Dysostosis, Weyers Type
Advanced eruption of teeth, Mild short stature, Facial cleft ORPHA:952
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Malar flattening, Short nose, Hypoplasia of the zygomatic bone ORPHA:2835
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Portal fibrosis, Elev... OMIM:616278
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Obesity, Inability to walk, Fever, Unsteady gait, Hip contracture, Elbow flexion contracture, Abn... OMIM:618493
Distal Xq28 Microduplication Syndrome
Upper eyelid edema, Broad nasal tip, Self-biting, Recurrent upper respiratory tract infections, H... ORPHA:293939
Metatropic Dysplasia
Kyphosis, Abnormal form of the vertebral bodies, Severe short stature, Scoliosis, Hypoplastic cer... ORPHA:2635
Chromosome 14Q11-Q22 Deletion Syndrome
Inability to walk, Growth delay, Micrognathia, Poor eye contact, Failure to thrive, Depressed nas... OMIM:613457
Hypertelorism, Microtia, Facial Clefting Syndrome
Abnormal heart morphology, Facial cleft OMIM:239800
Benign Paroxysmal Torticollis Of Infancy
Pallor, Torticollis ORPHA:71518
Craniofaciofrontodigital Syndrome
Long philtrum, Depressed nasal bridge, Abnormality of the dentition, Dental malocclusion, Antever... OMIM:114620
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Microcephaly, Lumbar hyperlordosis, Short stature, Scoliosis, Hip dislocation OMIM:616756
Zimmermann-Laband Syndrome
High palate, Bifid uvula, Bulbous nose, Gingival fibromatosis, Hypodontia, Supernumerary tooth, M... ORPHA:3473
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Narrow mouth, Open mouth, Microdontia, Micrognathia, Delayed eruption of permanent teeth, Antever... OMIM:619356
Intellectual Developmental Disorder, Autosomal Dominant 43
Anxiety, Impulsivity, Prominent nasal bridge, Wide nasal bridge OMIM:616977
Cerebellofaciodental Syndrome
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor OMIM:616202
Cholestasis-Lymphedema Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Cirrhosis, Neonatal cholesta... OMIM:214900
Congenital Hypothyroidism
Hypothyroidism, Abnormal hair morphology, Abnormality of the thyroid gland, Thyroid dysgenesis, A... ORPHA:442
Congenital Hydrocephalus
Colpocephaly, Ventriculomegaly, Frontal bossing, Hydrocephalus, Macrocephaly ORPHA:2185
Borjeson-Forssman-Lehmann Syndrome
Scheuermann-like vertebral changes, Kyphosis, Cervical spinal canal stenosis, Microcephaly, Short... OMIM:301900
Narrow palate, Oligodontia, Jaw swelling, Alveolar ridge overgrowth, Dental malocclusion, Marcus ... OMIM:118400
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Torus palatinus OMIM:144750
Miller-Dieker Syndrome
Anteverted nares, Abnormality of upper lip, Short nose ORPHA:531
Biliary Atresia, Extrahepatic
Bile duct proliferation, Atretic gallbladder, Hepatomegaly, Jaundice, Extrahepatic biliary duct a... OMIM:210500
Distal Trisomy 18Q
High palate, Carious teeth, Micrognathia, Choanal atresia, Abnormality of dental morphology, Prom... ORPHA:1716
Thanatophoric Dysplasia Type 1
Kyphosis, Ventriculomegaly, Platyspondyly, Cloverleaf skull, Frontal bossing, Abnormal sacroiliac... ORPHA:1860
Chromosome 16Q22 Deletion Syndrome
Wormian bones, Short neck, Growth delay, Highly arched eyebrow, Micrognathia, Microcephaly, Wide ... OMIM:614541
Chromosome 3Q29 Duplication Syndrome
Obesity, Short nose, Wide nasal bridge, Bulbous nose OMIM:611936
Intellectual Developmental Disorder With Autism And Macrocephaly
Wide nose, Anxiety, Overweight OMIM:615032
Dandy-Walker Malformation With Postaxial Polydactyly
Dolichocephaly, Dilated fourth ventricle, Dandy-Walker malformation, Frontal bossing, Microretrog... OMIM:220220
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Intrauterine growth retardation, Thick eyebrow, Highly arched eyebrow, Micrognathia, Mi... OMIM:615834
Pettigrew Syndrome
Ventriculomegaly, Dandy-Walker malformation, Scoliosis, Mandibular prognathia, Hydrocephalus OMIM:304340
Developmental And Epileptic Encephalopathy 56
Anxiety, Action tremor, Ataxia, Broad-based gait OMIM:617665
Short nose, Abnormality of the mouth, Depressed nasal ridge ORPHA:221054
Hamamy Syndrome
High palate, Long philtrum, Hypodontia, Wide nasal bridge, Micrognathia, Dysphagia, Smooth philtr... OMIM:611174
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating renin level, Increased circulating 18-hydroxycortisone level, Growth delay,... OMIM:610600
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Narrow mouth, Abnormal palate morphology, Short nose, Micrognathia ORPHA:1495
9q subtelomeric deletion syndrome
Protruding tongue, Anteverted nares, Short nose DECIPHER:52
Absent Eyebrows And Eyelashes With Mental Retardation
Convex nasal ridge, Short nose OMIM:200130
Hb Bart'S Hydrops Fetalis
Pallor, Pericarditis, Congestive heart failure, Hydrocephalus ORPHA:163596
Ceroid Lipofuscinosis, Neuronal, 3
Anxiety, Dementia, Loss of ambulation, Psychomotor deterioration OMIM:204200
Facial Clefting, Oblique, 1
Facial cleft OMIM:600251
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Biparietal narrowing, Synostosis of carpal bones, Kyphosis, Intrauterine growth retardation, Seve... ORPHA:1005
Auriculocondylar Syndrome
Narrow mouth, Bifid uvula, Micrognathia, Hamartoma of tongue, Abnormality of the temporomandibula... ORPHA:137888
Macrocephaly/Autism Syndrome
Depressed nasal bridge, Obesity, Long philtrum, Short nose OMIM:605309
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Odontodysplasia, Abnormal dental root morphology, Yellow-brown d... ORPHA:49042
Mend Syndrome
Kyphosis, Midface retrusion, Dandy-Walker malformation, Short stature, Microretrognathia, Hydroce... OMIM:300960
Pigmented Nodular Adrenocortical Disease, Primary, 2
Anxiety, Mental deterioration, Primary hypercortisolism, Truncal obesity, Emotional lability, Par... OMIM:610475
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice OMIM:613977
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Cri-Du-Chat Syndrome
High palate, Short philtrum, Bifid uvula, Small for gestational age, Thick lower lip vermilion, W... OMIM:123450
Albers-Schönberg Osteopetrosis
Carious teeth, Joint dislocation, Osteoarthritis, Frontal bossing, Short stature, Mandibular oste... ORPHA:53
Foxg1 Syndrome Due To 14Q12 Microdeletion
Bulbous nose, Everted lower lip vermilion, Excessive salivation, Palpebral edema, Tented upper li... ORPHA:261144
Bresek Syndrome
Plagiocephaly, Intrauterine growth retardation, Growth delay, Alopecia, Microcephaly, Scoliosis, ... ORPHA:85284
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Premature osteoarthritis, Kyphosis, Joint subluxation, Mild short stature, Congenital bilateral h... OMIM:130060
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hypoplastic toenails, Sparse scalp hair, Sparse eyebrow, Relative macrocephaly, Micrognathia, Dan... ORPHA:459061
Young-Onset Parkinson Disease
Impaired social interactions, Cognitive impairment, Dystonia, Anxiety, Dementia, Bradykinesia, Pa... ORPHA:2828
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Frontal bossing, Hydrocephalus, Macrocephaly, Umbilical hernia ORPHA:380
Intellectual Developmental Disorder, Autosomal Dominant 57
Craniosynostosis, Kyphosis, Microcephaly, Short stature, Scoliosis, Hypertrichosis OMIM:618050
Adiposis Dolorosa
Anxiety, Depression, Obesity OMIM:103200
Leukodystrophy, Hypomyelinating, 10
Long philtrum, Bulbous nose, Failure to thrive, Malar flattening, Smooth philtrum, Anteverted nar... OMIM:616420
Parkinsonism With Polyneuropathy
Anxiety, Depression, Bradykinesia, Resting tremor OMIM:619279
Supernumerary Nostril
Facial cleft ORPHA:141096
Diamond-Blackfan Anemia 8
Thick upper lip vermilion, Wide nasal bridge, Short nose OMIM:612563
Intermediate Osteopetrosis
Osteosclerosis of the base of the skull, Abnormality of dental morphology, Dental malocclusion, A... ORPHA:210110
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Impaired social interactions, Intrauterine growth retardation, Hypercholesterolemia, Obesity, Mic... ORPHA:254531
Congenital Muscular Dystrophy, Fukuyama Type
Plagiocephaly, Dolichocephaly, Intrauterine growth retardation, Ventriculomegaly, Brachycephaly, ... ORPHA:272
Meningococcal Meningitis
Paresthesia, Lethargy, Fever, Hypothermia ORPHA:33475
Muir-Torre Syndrome
Benign genitourinary tract neoplasm, Adenoma sebaceum, Carcinoma, Colon cancer, Breast carcinoma,... OMIM:158320
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Kyphoscoliosis, Macrocephaly, Hydrocephalus OMIM:300886
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Intrauterine growth retardation, Abnormality of the cervical spine, Long eyelashes, Ven... ORPHA:48431
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Hypoplasia of the maxilla, Fro... ORPHA:93262
Encephalopathy Due To Sulfite Oxidase Deficiency
Long philtrum, Short nose, Thick vermilion border ORPHA:833
Landau-Kleffner Syndrome
Memory impairment, Anxiety, Steppage gait, Aggressive behavior, Gait ataxia, Emotional lability, ... ORPHA:98818
Pterygium Colli, Isolated
Short nose OMIM:177990
Hyperphosphatasia With Mental Retardation Syndrome 3
Broad nasal tip, Wide nasal bridge, Tented upper lip vermilion, Cleft palate, Short nose OMIM:614207
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cognitive impairment, Memory impairment, Anxiety, Dementia, Motor deterioration, Bradyphrenia, Ap... ORPHA:136
Juvenile Huntington Disease
Hyperactivity, Bradykinesia, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Chorea, Weight l... ORPHA:248111
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Multiple System Atrophy, Cerebellar Type
Resting tremor, Axial dystonia, Anxiety, Bradykinesia, Progressive cerebellar ataxia, Gait ataxia... ORPHA:227510
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short philtrum, Microretrognathia, Wide nasal bridge, Short nose OMIM:613603
Jansen-De Vries Syndrome
Anxiety, Short stature, Anteverted nares, Broad-based gait OMIM:617450
Myopathy, Myofibrillar, 8
High palate, Impaired mastication, Micrognathia, Dysphagia, Dental malocclusion OMIM:617258
Frontometaphyseal Dysplasia 1
High palate, Delayed eruption of teeth, Antegonial notching of mandible, Wide nasal bridge, Selec... OMIM:305620
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Micrognathia, Poor eye contact, Postnatal growth retardation, Short nose OMIM:615419
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy, Growth delay OMIM:500007
Cebalid Syndrome
High palate, Depressed nasal ridge, Depressed nasal bridge, Polyphagia, Anteverted nares, Short nose OMIM:618774
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Thin vermilion border, Long philtrum, Obesity, Micrognathia, Depressed nasal bridge, Malar flatte... ORPHA:171839
Methylmalonic Acidemia With Homocystinuria
Microcephaly, Hydrocephalus ORPHA:26
Chromosome 16P13.3 Duplication Syndrome
Bulbous nose, Malar flattening, Short nose OMIM:613458
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormality of skin pigmentation, Abnormal form of the vertebral bodies, Scoliosis, Abnormal dent... ORPHA:2180
Optic Atrophy 1
Pallor OMIM:165500
Trichorhinophalangeal Syndrome, Type I
Long philtrum, Delayed eruption of teeth, Microdontia, Carious teeth, Deep philtrum, Micrognathia... OMIM:190350
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Decreased body weight, Anxiety, Inability to walk, Wide nasal bridge, Ataxia, Poor eye contact, D... OMIM:300260
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypothyroidism, Decreased body weight, Proportionate short stature, Small for gestational age, De... ORPHA:391408
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventriculomegaly, Midface retrusion, Frontal bossing, Short stature, Abnormal shap... OMIM:218350
Sclerosteosis 1
Wide nasal bridge, Facial palsy secondary to cranial hyperostosis, Depressed nasal bridge, Malar ... OMIM:269500
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Intrauterine growth retardation, Hydranencephaly, Ventriculomegaly, Micrognathia, Microcephaly, D... OMIM:225790
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Adrenocortical carcinoma, Anxiety, Increased... ORPHA:1501
17P11.2 Microduplication Syndrome
Anxiety, Oral-pharyngeal dysphagia, Micrognathia, Short stature, Failure to thrive ORPHA:1713
Hyperinsulinism Due To Ucp2 Deficiency
Pallor, Hypertrophic cardiomyopathy, Palpitations, Syncope, Tachycardia ORPHA:276556
Larsen-Like Syndrome
Dental malocclusion, Joint dislocation, Kyphoscoliosis, Frontal bossing, Short stature, Brachycep... OMIM:608545
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
High palate, Bulbous nose, Open mouth, Micrognathia, Thin upper lip vermilion, Short nose OMIM:613604
Delayed eruption of teeth, Depressed nasal bridge, Retrognathia, Dentinogenesis imperfecta, Short... ORPHA:166272
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Dental malocclusion, Carious teeth, Wide nasal bridge OMIM:615560
Luscan-Lumish Syndrome
Long nose, Anxiety, Obesity, Aggressive behavior, Shyness, Short stature, Malar flattening, Mandi... OMIM:616831
Holoprosencephaly, Spina bifida, Calvarial skull defect, Hydrocephalus ORPHA:945
Al-Raqad Syndrome
Narrow mouth, Thin upper lip vermilion, Short nose OMIM:616459
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Micrognathia, Macroglossia, Failure to thrive, Depressed nasal bridge, Malar flattenin... OMIM:242860
Acrodysostosis 2 With Or Without Hormone Resistance
Intrauterine growth retardation, Obesity, Mild short stature, Congenital hypothyroidism, Depresse... OMIM:614613
Inherited Creutzfeldt-Jakob Disease
Anxiety, Dementia, Bradykinesia, Progressive cerebellar ataxia, Apathy, Gait ataxia, Emotional la... ORPHA:282166
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Anxiety, Increased serum testosterone... OMIM:610489
Biemond Syndrome Ii
Short stature, Hydrocephalus OMIM:210350
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Joint contracture of the hand, Broad nail, Congenital hip dislocation, Scoliosis, Campt... OMIM:300280
Spondylometaphyseal Dysplasia, X-Linked
Abnormality of the nail, Enlarged joints, Kyphosis, Severe short stature, Thoracolumbar scoliosis... OMIM:313420
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bulbous nose, Wide nasal bridge, Ataxia, Aggressive behavior, Depressed nasal bridge, Short statu... ORPHA:369891
Pallister-Hall-Like Syndrome
Micrognathia, Microglossia, Depressed nasal bridge, Short nose, Cleft palate, Median cleft lip OMIM:241800
Constricting Bands, Congenital
Ectopia cordis, Encephalocele, Facial cleft OMIM:217100
16P12.1P12.3 Triplication Syndrome
Nail-biting, Intrauterine growth retardation, Bulbous nose, Skin-picking, Anxiety, Failure to thr... ORPHA:485405
Menkes Disease
Sparse hair, Brittle hair, Hypothermia, Alopecia OMIM:309400
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Macrocephaly at birth, Ventriculomegaly, Hydrocephalus ORPHA:324416
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Kyphosis, Coarse hair, Carious teeth, Joint contracture of the 5th finger, Short st... ORPHA:1883
Kabuki Syndrome 2
Broad nasal tip, High palate, Decreased body weight, Lower lip pit, Hypodontia, Micrognathia, Nat... OMIM:300867
Mucopolysaccharidosis, Type Vii
Short neck, Kyphosis, Coarse hair, Anterior beaking of lumbar vertebrae, Anterior beaking of lowe... OMIM:253220
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Anxiety, Truncal obesity, Short stature, Increased body mass index, Ga... OMIM:300957
Seckel Syndrome 1
High palate, Enamel hypoplasia, Convex nasal ridge, Micrognathia, Selective tooth agenesis, Denta... OMIM:210600
Muenke Syndrome
High palate, Dental malocclusion, Malar flattening OMIM:602849
1P21.3 Microdeletion Syndrome
Broad nasal tip, Self-injurious behavior, Obesity, Aggressive behavior, Shyness, Micrognathia, Se... ORPHA:293948
Intellectual Developmental Disorder, Autosomal Dominant 36
Plagiocephaly, Ventriculomegaly, Microcephaly, Scoliosis, Hydrocephalus, Abnormal hair whorl, Pro... OMIM:616362
Acute Myelomonocytic Leukemia
Pallor, Abnormal bleeding ORPHA:517
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Hypothermia OMIM:616501
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Rhizomelia, Platyspondyly, Frontal bossing, Short stature, Hydro... OMIM:300863
Adult-Onset Autosomal Dominant Leukodystrophy
Dysmetria, Spastic gait, Impaired proprioception, Flexion contracture, Ataxia, Gait disturbance, ... ORPHA:99027
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor, Hypertrophic cardiomyopathy, Palpitations, Syncope, Tachycardia ORPHA:276575
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Pierre-Robin sequence, Cleft mandible, Bulbous nose, Underdeveloped nasal alae, Oligodontia, Agen... ORPHA:364577
Rheumatic Fever
Abnormal heart valve morphology, Arrhythmia, Abnormal mitral valve morphology, Endocarditis, Myoc... ORPHA:3099
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Decreased thyroid-stimulating hormone level, Macroglossia, Decreased circulat... ORPHA:226307
Osteogenesis Imperfecta, Type Ix
Wormian bones, Decreased calvarial ossification, Kyphosis, Platyspondyly, Scoliosis, Disproportio... OMIM:259440
Oculomaxillofacial Dysostosis
Short stature, Facial cleft ORPHA:1794
Aminopterin/Methotrexate Embryofetopathy
Small nail, Intrauterine growth retardation, Anencephaly, Micrognathia, Spinal dysraphism, Microc... ORPHA:1908
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Anxiety, Overweight, Short stature, Self-mutilation, Gait disturbance, Depression, Decreased resp... ORPHA:457240
Classic Galactosemia
Action tremor, Dystonia, Anxiety, Mental deterioration, Ataxia, Lethargy, Postural tremor, Depres... ORPHA:79239
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Obesity, Overweight, Lethargy, Increased circulating free fatty acid l... ORPHA:26793
Colorectal Cancer, Susceptibility To, 10
Colorectal polyposis, Endometrial carcinoma, Carcinoma OMIM:612591
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor, Hypertrophic cardiomyopathy, Palpitations, Syncope, Tachycardia ORPHA:276580
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Eleva... OMIM:613812
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Bulbous nose, Anxiety, Obesity, Ataxia, Aggressive behavior, Depressed nasal bridge, Short nose OMIM:618430
Usher Syndrome Type 1
Anxiety, Depression, Abnormal dental enamel morphology, Ataxia ORPHA:231169
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Short stature, Kyphosis OMIM:618453
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Absent pubic hair, Primary adrenal insufficiency, Elevated circulating luteinizing hormone level,... ORPHA:90793
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Thick nasal alae, Micrognathia, Dysphagia, Retrognathia, Short nose ORPHA:163961
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Frontal bossing, Short stature, Kyphosis, Scoliosis ORPHA:276630
Anauxetic Dysplasia 3
Small nail, Plagiocephaly, Thoracolumbar kyphoscoliosis, Severe short stature, Beaking of vertebr... OMIM:618853
Phelan-Mcdermid Syndrome
High palate, Long philtrum, Bulbous nose, Widely spaced teeth, Wide nasal bridge, Palpebral edema... OMIM:606232
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Hyperlordosis, Knee flexion contracture, Scoliosis, Elbow flexion contracture OMIM:600175
Thanatophoric Dysplasia, Type I
Severe short stature, Cloverleaf skull, Frontal bossing, Hydrocephalus, Macrocephaly, Severe plat... OMIM:187600
Hidrotic Ectodermal Dysplasia
Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Anon... ORPHA:189
Oculocerebrocutaneous Syndrome
Facial cleft, Hydrocephalus ORPHA:1647
Autoimmune Hemolytic Anemia, Cold Type