Registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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
phenotypes
Matching phenotypes Source
Williams Syndrome
Carious teeth, Open bite, Micrognathia, Overfriendliness, Everted lower lip vermilion, Periorbita... ORPHA:904

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:606664
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short columella, Dental malocclusion, Short nose OMIM:155050
17Q21.31 Microduplication Syndrome
Abnormality of the dentition, Failure to thrive, Anteverted nares, Micrognathia, Malar flattening... ORPHA:217340
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Broad nasal tip, Retrognathia, Inflexible adherence to routines, Failure... OMIM:613670
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... ORPHA:477781
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Orbital craniosynostosis, Micrognathia, Hydrocephalus, Dolichocephaly, Frontal bossing, Dandy-Wal... ORPHA:1538
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... ORPHA:83451
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Rhiny
Thin vermilion border, Anteverted nares, Short nose OMIM:180360
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Fryns Microphthalmia Syndrome
Tessier cleft, Bilateral cleft lip, Neural tube defect, Bilateral cleft palate OMIM:600776
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Micrognathia, Thin upper lip vermilion, Short nose, Cleft palate ORPHA:2015
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion, Prominent nose, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:615541
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Anterior encephalocele, Ventricular septal defect, Bilateral cleft palate, Bilater... OMIM:601357
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Resting tremor, Abnormal fear-induced behavior, Obesity, Tremor... ORPHA:3077
Mcdonough Syndrome
Dental malocclusion, Underdeveloped nasal alae, Open bite, Prominent nose, Micrognathia, Abnormal... ORPHA:2471
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... ORPHA:66624
Galactosemia Iv
Hepatomegaly, Prolonged neonatal jaundice OMIM:618881
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Anteverted nares, Narrow mouth, Abnormal oral cavity morphology, Short nose ORPHA:1355
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Rubinstein-Taybi Syndrome 2
Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Prominent nose, Micrognathia, In... OMIM:613684
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Potocki-Lupski Syndrome
Mandibular prognathia, Dental malocclusion, Failure to thrive, Oral-pharyngeal dysphagia, Dental ... OMIM:610883
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Oral-pharyngeal dys... ORPHA:199306
Megalencephaly, Autosomal Dominant
Hydrocephalus, Macrocephaly OMIM:155350
Intellectual Developmental Disorder, X-Linked 91
Macrodontia, Obesity, Short nose, High palate OMIM:300577
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular... OMIM:614669
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Short stature, Pica, Motor stereotypy, Choreoathetosis OMIM:617270
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Increased serum serotonin, Impaired ability to form peer relationships, Inf... OMIM:608636
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal vertebral morphology, Ventriculomegaly, Microcephaly, Hydrocephalus, Macrocephaly OMIM:618709
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Malar flattening, Underdeveloped nasal alae, Widely spaced teeth OMIM:616108
Unilateral Ocular Duplication
Midline facial cleft, Encephalocele, Cleft palate ORPHA:3374
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
Maxillonasal Dysplasia
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Tooth agenesis, Open bi... ORPHA:1248
Clark-Baraitser Syndrome
Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Obesity, Anteverted nares, Ex... OMIM:617752
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Anteverted nares, Mandibular prognathia, Dental malocclusion, High palate OMIM:618292
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology ORPHA:3032
Diabetes Insipidus, Neurohypophyseal
Long philtrum, Short nose, Wide nose OMIM:125700
Developmental And Epileptic Encephalopathy 73
Failure to thrive, Narrow nasal bridge, Irritability, Restlessness, Short nose OMIM:618379
Masa Syndrome
Ventriculomegaly, Microcephaly, Hyperlordosis, Hydrocephalus, Macrocephaly, Short stature, Kyphosis OMIM:303350
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Burn-Mckeown Syndrome
Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Abnormal palate morphology,... ORPHA:1200
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Downturned corners of mouth, Long philtrum, Narrow mouth, Thin vermilion b... ORPHA:1906
Anophthalmia Plus Syndrome
Tessier cleft, Bilateral cleft palate, Spina bifida, Non-midline cleft of the upper lip, Cleft pa... ORPHA:1104
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus, Macrocephaly OMIM:615938
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Decreased circu... ORPHA:95717
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Retrognathia, Anteverted nares, Gingival overgrowth, Micrognathia, Median ... ORPHA:1832
Intellectual Developmental Disorder, X-Linked 58
Short philtrum, Dental malocclusion OMIM:300210
Adenylosuccinate Lyase Deficiency
Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth philtrum, Short nose ORPHA:46
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Postnatal growth retardation, Chorea, Cog... ORPHA:309246
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus, Macrocephaly OMIM:615937
Baker-Gordon Syndrome
Self-injurious behavior, Thin upper lip vermilion, Smooth philtrum, Prominent nasal tip, Dystonia... OMIM:618218
Erythroleukemia, Familial, Susceptibility To
Splenomegaly, Hepatomegaly, Acute myeloid leukemia, Leukemia, Refractory anemia with ringed sider... OMIM:133180
Mulibrey Nanism
Wide nasal bridge, Depressed nasal bridge, Microglossia, Dental malocclusion, Dental crowding, Ab... OMIM:253250
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Sparse body hair, Melanocytic nevus, Hydrocephalus, Abnormal eyelash morpho... ORPHA:1008
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Attention deficit hyperactivity disorder, Small for gestational age, Short nose OMIM:245570
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Umbilical hernia, Micrognathia, Dolichocephaly, Short neck, Hydrocephalus, Macrocephaly, Short st... ORPHA:1516
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis, Hydrocephalus, Dandy-Walker malformation OMIM:123155
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
14Q11.2 Microdeletion Syndrome
Depressed nasal bridge, Long philtrum, Micrognathia, Narrow mouth, Exaggerated cupid's bow, Deep ... ORPHA:261120
Ring Chromosome 8 Syndrome
Anteverted nares, Short nose, Abnormal palate morphology ORPHA:1450
Craniosynostosis 6
Plagiocephaly, Parietal foramina, Right unilambdoid synostosis, Delayed cranial suture closure, L... OMIM:616602
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Acromesomelic Dysplasia, Maroteaux Type
Disproportionate short stature, Vertebral wedging, Abnormal form of the vertebral bodies, Beaking... ORPHA:40
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
High palate, Mandibular prognathia, Dysphagia, Dental malocclusion OMIM:608931
Camptodactyly Syndrome, Guadalajara Type 1
Depressed nasal bridge, Dental malocclusion, Downturned corners of mouth, Open bite, Anteverted n... ORPHA:1327
Gómez-López-Hernández Syndrome
Toenail dysplasia, Alopecia of scalp, Turricephaly, Brachycephaly, Hydrocephalus, Short stature ORPHA:1532
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Thin upper lip vermilion, Everted lower lip vermilion, Truncal obesity, Sh... ORPHA:2429
Blepharophimosis-Impaired Intellectual Development Syndrome
Wide nasal bridge, Dental malocclusion, Underdeveloped nasal alae, Widely spaced teeth, Anteverte... OMIM:619293
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Thick lower lip vermilion, Obesity, Anteverted nares, Tented upper lip vermilion, Stereotypical h... OMIM:619854
Melanocytic Nevus Syndrome, Congenital
Broad nasal tip, Long philtrum, Anteverted nares, Open mouth, Prominence of the premaxilla, Narro... OMIM:137550
Intellectual Developmental Disorder, X-Linked 21
Dental crowding, Open mouth, Tented upper lip vermilion, Hyperactivity, Short nose, Mandibular pr... OMIM:300143
Kleeblattschaedel
Craniosynostosis, Elbow ankylosis, Hydrocephalus, Cloverleaf skull OMIM:148800
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Micrognathia, Narrow mouth, Man... OMIM:602483
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Pallor, Abnormality of venous physio... ORPHA:90064
Lessel-Kreienkamp Syndrome
Wide nasal bridge, Dental malocclusion, Open mouth, Thin upper lip vermilion, Aggressive behavior... OMIM:619149
Parastremmatic Dwarfism
Severe short stature, Genu valgum, Short neck, Scoliosis, Kyphosis OMIM:168400
Developmental And Epileptic Encephalopathy 78
Inability to walk, Chorea, Hypothermia OMIM:618557
Frontal Encephalocele
Calvarial skull defect, Encephalocele, Hydrocephalus, Spina bifida, Macrocephaly, Dolichocephaly ORPHA:1931
Achondroplasia
Thoracolumbar kyphosis, Hip joint hypermobility, Disproportionate short stature, Rhizomelia, Cerv... ORPHA:15
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:95716
Chung-Jansen Syndrome
Long philtrum, Obesity, Anteverted nares, Micrognathia, Short philtrum, Aggressive behavior, Atte... OMIM:617991
Childhood Disintegrative Disorder
Mental deterioration, Abnormal emotion, Reduced social reciprocity, Motor deterioration, Social a... ORPHA:168782
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... OMIM:257850
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Hypothermia, Generalized amyotrophy OMIM:610006
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Microcephaly, Seizures, And Developmental Delay
Simplified gyral pattern, Skeletal muscle atrophy, Hyperactivity, Ataxia OMIM:613402
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Microdontia, Thin upper lip v... OMIM:619736
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, Everted lower lip vermilion, Convex nasal ridge, High palat... ORPHA:1695
Intellectual Developmental Disorder, X-Linked 30
Thick upper lip vermilion, Anteverted nares, Prominent nasal bridge, Open mouth, Thin upper lip v... OMIM:300558
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Coronal craniosynostosis, Platyspondyly, Dentinogenesis imperfecta, ... OMIM:616294
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Long philtrum, Abnormal palate morphology, Cachexia, Short nose ORPHA:1389
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Micrognathia, Long nose, Low ha... OMIM:613680
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Cornelia De Lange Syndrome 2
Highly arched eyebrow, Ventriculomegaly, Postnatal growth retardation, Intrauterine growth retard... OMIM:300590
Intellectual Disability And Myopathy Syndrome
Broad nasal tip, Dental malocclusion, Thin upper lip vermilion, Incisor macrodontia, Widely-space... OMIM:619719
Alpha-Mannosidosis
Depressed nasal bridge, Craniofacial hyperostosis, Dental malocclusion, Widely spaced teeth, Open... ORPHA:61
Developmental And Epileptic Encephalopathy 36
Microretrognathia, Microcephaly, Hydrocephalus, Macrocephaly, Scoliosis OMIM:300884
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly, Macrocephaly OMIM:611808
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Plagiocephaly, Long eyelashes, Micrognathia, Unilambdoid synostosis, Brachyceph... OMIM:618577
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Tessier cleft, Ethmoidal encephalocele, Cleft palate OMIM:607597
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Failure to thrive, Broad columella, Downturned corners of mouth, Widely s... OMIM:617865
Fanconi Anemia, Complementation Group S
Dental malocclusion, Failure to thrive, Underdeveloped nasal alae, Thick upper lip vermilion, Mac... OMIM:617883
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Lateral ventricle dilatation, Bicoronal synostosis, Low anterior hai... OMIM:618736
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Micrognathia, Open mouth, ... OMIM:614744
Acrootoocular Syndrome
Wide nasal base, High, narrow palate, Dental malocclusion, Failure to thrive, Delayed eruption of... ORPHA:2980
Spontaneous Periodic Hypothermia
Gait disturbance, Hypothermia, Ataxia ORPHA:29822
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Dental malocclusion, Broad columella, Underdeveloped nasal alae, Diastema, Micrognathia, Malar fl... ORPHA:436245
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Macrocephaly ORPHA:99966
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly OMIM:606445
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hip dislocation, Hirsutism, Microcephaly, Short stature, Scoliosis, Kyphosis OMIM:300434
Frontofacionasal Dysplasia
Tessier cleft, Encephalocele, Short stature, Non-midline cleft of the upper lip, Cleft palate ORPHA:1791
Hemoglobin H Disease
Hepatomegaly, Splenomegaly OMIM:613978
Hsd10 Disease
Postnatal growth retardation, Short attention span, Tremor, Gait disturbance, Ataxia, Dysphagia, ... ORPHA:391417
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Scaphocephaly, Genu valgum, Patellar subluxation, Hydrocephalus, Macrocephaly, Dolichocephaly, Ma... OMIM:248000
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation, Paresthesia OMIM:615361
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Short nose ORPHA:438178
Rhizomelic Syndrome, Urbach Type
Rhizomelia, Kyphosis, Abnormal form of the vertebral bodies, Micrognathia, Microcephaly, Short ne... ORPHA:3098
Congenital Disorder Of Glycosylation, Type Iiy
Ventriculomegaly, Microcephaly, Brachycephaly, Hip subluxation, Scoliosis OMIM:620200
Fg Syndrome 5
Depressed nasal bridge, Diastema, Long philtrum, Anteverted nares, Short nose OMIM:300581
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Dental malocclusion OMIM:619692
Three M Syndrome 2
Depressed nasal bridge, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Anteverted... OMIM:612921
Riboflavin Deficiency
Lethargy, Hypothermia OMIM:615026
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Abnormality of the dentition, Mandibular prognathia, Dental malocclusion ORPHA:1858
Craniodigital-Intellectual Disability Syndrome
Long eyelashes, Thick eyebrow, Micrognathia, Generalized hirsutism, Brachycephaly, Abnormal hair ... ORPHA:1514
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Robinow Syndrome, Autosomal Dominant 2
Depressed nasal bridge, Abnormality of the dentition, Dental malocclusion, Dental crowding, Long ... OMIM:616331
1Q21.1 Microduplication Syndrome
Hydrocephalus, Frontal bossing, Hip dislocation, Macrocephaly ORPHA:250994
Mosaic Trisomy 9
Tessier cleft, Webbed neck, Abnormal heart valve morphology, Intrauterine growth retardation, End... ORPHA:99776
Cri-Du-Chat Syndrome
Wide nasal bridge, Bifid uvula, Microretrognathia, Downturned corners of mouth, Thick lower lip v... OMIM:123450
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Trigonocepha... OMIM:609637
Momo Syndrome
Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip... OMIM:157980
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Umbilical hernia, Decreas... ORPHA:226313
Pierpont Syndrome
Broad nasal tip, Failure to thrive, Widely spaced teeth, Malar flattening, Prominent median palat... OMIM:602342
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Delayed vertebral ossification, Genu valgum, Butterfly vertebrae, Back pain, Kyphoscoliosis, Micr... OMIM:613330
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation, Macrocephaly OMIM:607091
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Thickened calvaria, Brachycephaly, Macrocephaly, Craniosynostosis ORPHA:178377
Weiss-Kruszka Syndrome
Exaggerated cupid's bow, Prominent nasal tip, Broad philtrum, Short nose ORPHA:502430
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Micrognathia, Narrow mouth, Polyphagia, High palate, Restlessness, Short nose, Pierre-Robin seque... ORPHA:251028
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Delayed eruption of permanent teeth, Exaggerated cupid's bow, Thick vermilion b... OMIM:618506
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Hydrocephalus, Kyphoscoliosis OMIM:236660
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Aplasia/Hypoplasia invo... ORPHA:1529
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Failure to thrive, Increased circul... ORPHA:90674
X-Linked Intellectual Disability, Stocco Dos Santos Type
Short stature, Congenital bilateral hip dislocation, Kyphosis, Hirsutism ORPHA:85288
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Spastic Paraplegia 18B, Autosomal Recessive
Scoliosis, Kyphosis, Ankle clonus OMIM:611225
Hydrocephalus-Obesity-Hypogonadism Syndrome
Low posterior hairline, Cubitus valgus, Short neck, Sparse facial hair, Hydrocephalus, Short stat... ORPHA:2183
Meningococcal Meningitis
Fever, Paresthesia, Hypothermia, Lethargy, Increased circulating procalcitonin concentration, Ano... ORPHA:33475
Kleefstra Syndrome 2
Plagiocephaly, Growth delay, Thick eyebrow, Microcephaly, Scoliosis, Kyphosis OMIM:617768
Intellectual Developmental Disorder, X-Linked 98
Bulimia, Postnatal growth retardation, Self-biting, Ataxia, Long nose, Motor stereotypy, Short no... OMIM:300912
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Pallor, Ventricular septal defect, Paroxysmal atrial tachycardia, Atria... ORPHA:49827
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Muenke Syndrome
Coronal craniosynostosis, Plagiocephaly, Hypopigmented skin patches, Carpal synostosis, Brachycep... ORPHA:53271
Foxp1 Syndrome
Recurrent upper respiratory tract infections, Broad nasal tip, Failure to thrive, Retrognathia, S... ORPHA:391372
Silver-Russell Syndrome Due To 11P15 Microduplication
Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Severe intraute... ORPHA:231144
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Head-banging, Anteverted nares, Micrognathia, Open mouth, Narrow mouth, Microdontia, Delayed erup... OMIM:619356
Fried Syndrome
Thickened calvaria, Scoliosis, Hydrocephalus ORPHA:85335
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol... OMIM:271530
Acrofacial Dysostosis, Catania Type
Tessier cleft, Webbed neck, Intrauterine growth retardation, Short stature, Spina bifida occulta ORPHA:1786
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Wide nasal bridge, Conical tooth, Dental malocclusion, Thick nasal alae, Persistence of primary t... OMIM:618727
Craniosynostosis 3
Dental malocclusion OMIM:615314
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Wide nasal bridge, Bulbous nose, Thin upper lip vermilion, Aggressive behavior, Attention deficit... OMIM:620292
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Dental malocclusion, Failure to thrive, Micrognathia, Thin upper lip vermilion, Deep philtrum, Hi... ORPHA:329178
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Hypothermia, Aggressive behavior, Lethargy, Anorexia OMIM:237310
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Chorea, Action tremor, Tremor, Reduced social reciprocity, Aggressive behavior, Dysph... OMIM:619738
Craniotelencephalic Dysplasia
Microcephaly, Hydrocephalus, Frontal encephalocele, Craniosynostosis, Frontal bossing ORPHA:1528
Band Heterotopia
Ventriculomegaly, Plagiocephaly, Lateral ventricle dilatation, Hydrocephalus, Macrocephaly OMIM:600348
Temple Syndrome
Frontal bossing, Few cafe-au-lait spots, Postnatal growth retardation, Hydrocephalus, Short statu... ORPHA:254516
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Cole-Carpenter Syndrome 1
Coronal craniosynostosis, Dentinogenesis imperfecta, Orbital craniosynostosis, Micrognathia, Comm... OMIM:112240
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Brachycephaly, Hydrocephalus, Melanocytic nevus OMIM:612247
Pseudodiastrophic Dysplasia
Platyspondyly, Severe short stature, Rhizomelia, Hypoplasia of the odontoid process, Elbow disloc... OMIM:264180
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Reduced social reciprocity, Aggressive behavior, Polyphagia, Short sta... ORPHA:329249
Osteogenesis Imperfecta, Type Iii
Wide anterior fontanel, Neonatal short-limb short stature, Scoliosis, Disproportionate short-limb... OMIM:259420
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Harrod Syndrome
Dental malocclusion, Failure to thrive, Narrow mouth, Long nose, High palate ORPHA:2115
Odontotrichoungual-Digital-Palmar Syndrome
Natal tooth, Mandibular prognathia, Dental malocclusion, Thick vermilion border OMIM:601957
Potocki-Shaffer Syndrome
Wide nasal bridge, Downturned corners of mouth, Underdeveloped nasal alae, Short philtrum, Short ... OMIM:601224
Tetrasomy 12P
Downturned corners of mouth, Delayed eruption of teeth, Long philtrum, Thick upper lip vermilion,... ORPHA:884
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Micrognathia, Long philtrum, Short nose ORPHA:2598
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Self-injurious behavior, Wide nasal bridge, Depressed nasal bridge, Dental crowding, Retrognathia... OMIM:617061
Peroxisome Biogenesis Disorder 12A (Zellweger)
Scaphocephaly, Abnormality of the hairline, Prominence of the premaxilla, Microcephaly, Delayed c... OMIM:614886
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Wide nasal bridge, Abnormality of the dentition, Dental malocclusion, Thick lower lip vermilion, ... ORPHA:85321
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Depression, Decreased response to growth hormone stimulation test, Antev... OMIM:601853
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Thin upper lip vermilion, ... OMIM:613443
Smith-Magenis Syndrome
Micrognathia, Delayed eruption of primary teeth, Motor stereotypy, Short nose, Self-injurious beh... ORPHA:819
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Abnormal heart morphology, Cleft palate OMIM:239800
Greig Cephalopolysyndactyly Syndrome
Abnormal calvaria morphology, Joint contracture of the hand, Ventriculomegaly, Delayed cranial su... OMIM:175700
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Umbilical hernia, Sacral dimple, Micrognathia, Macrocephaly, Frontal bossing, Kyphosis, Wide ante... OMIM:618272
Joubert Syndrome 15
Exencephaly OMIM:614464
Winchester Syndrome
Hirsutism, Kyphosis, Carpal osteolysis, Arthropathy OMIM:277950
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Lissencephaly, Failure to thrive, Polymicrogyria, Self-mutilation, Abnormality of neuronal migrat... OMIM:604317
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Elbow flexion contracture, Microcephaly, Small nail, Hydrocephalus OMIM:619470
Aminopterin Syndrome Sine Aminopterin
Highly arched eyebrow, Joint contracture of the hand, Umbilical hernia, Intrauterine growth retar... OMIM:600325
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Dental crowding, Long philtrum, Anteverted nares, Anterior open-bite malocclusion, Thin upper lip... OMIM:617877
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Decreased circu... ORPHA:90673
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus OMIM:166990
X-Linked Intellectual Disability, Cantagrel Type
Tented upper lip vermilion, Short philtrum, Motor stereotypy, Short nose ORPHA:85277
Perlman Syndrome
Wide nasal bridge, High, narrow palate, Retrognathia, Anteverted nares, Micrognathia, Open mouth,... ORPHA:2849
Coenzyme Q10 Deficiency, Primary, 5
Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Hypothermia OMIM:614654
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Intrauterine growth retardation, Obesity, Congenital hypothyroidism, Mala... OMIM:614613
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, R... ORPHA:363444
Acromicric Dysplasia
Long philtrum, Thick lower lip vermilion, Bulbous nose, Anteverted nares, Narrow mouth, Short nose ORPHA:969
Leptin Receptor Deficiency
Recurrent upper respiratory tract infections, Decreased response to growth hormone stimulation te... OMIM:614963
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Short stature, K... ORPHA:2786
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate OMIM:600251
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Bifid uvula, Depressed nasal bridge, Dental malocclusion, Delayed eruption of teeth, Hypodontia, ... OMIM:612350
Microcephaly-Microcornea Syndrome, Seemanova Type
Retrognathia, Microcephaly, Brachycephaly, Short stature, Growth delay ORPHA:2528
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia, Skeletal muscle atrophy, Failure to thrive OMIM:245400
Larsen-Like Syndrome
Joint dislocation, Dental malocclusion, Kyphoscoliosis, Brachycephaly, Macrocephaly, Short statur... OMIM:608545
Edinburgh Malformation Syndrome
Choanal atresia, Failure to thrive, Downturned corners of mouth, Anteverted nares, Micrognathia, ... ORPHA:1895
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hypoplasia of the maxilla, Abnormality of the vertebral column, Brachycephaly, ... OMIM:109120
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... ORPHA:64743
17P13.3 Microduplication Syndrome
High palate, Narrow mouth, Short nose, Wide nose ORPHA:217385
9q subtelomeric deletion syndrome
Anteverted nares, Protruding tongue, Short nose DECIPHER:52
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Pycnodysostosis
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Prom... ORPHA:763
Peho-Like Syndrome
Open mouth, Retrognathia, Short nose OMIM:617507
Ohdo Syndrome
Wide nasal bridge, Depressed nasal bridge, Long philtrum, Widely spaced teeth, Anteverted nares, ... OMIM:249620
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Short stature, Ventriculomegaly, Brachycephaly, Macrocephaly OMIM:300699
Medullary Thyroid Carcinoma
Pheochromocytoma, Neoplasm of the skeletal system, Medullary thyroid carcinoma, Abnormal liver pa... ORPHA:1332
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Sparse hair, Mandibular prognathia, Plagiocephaly, Thoracic hemivertebrae, Genu valgum, Microceph... OMIM:619721
1Q44 Microdeletion Syndrome
Ventriculomegaly, Growth delay, Frontal bossing, Micrognathia, Microcephaly, Biparietal narrowing... ORPHA:238769
Intellectual Disability, Buenos-Aires Type
Wide nasal bridge, Dental malocclusion, Open bite, Abnormal dental morphology, High palate, Mandi... ORPHA:3079
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Carious teeth, Premature graying of hair, Micrognathia, Alopecia of scalp, ... ORPHA:2617
Phelan-Mcdermid Syndrome
Wide nasal bridge, Dental malocclusion, Long philtrum, Widely spaced teeth, Bruxism, Bulbous nose... OMIM:606232
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Wide nasal bridge, Broad nasal tip, Bruxism, Tented upper lip vermilion, Thin upper lip vermilion... OMIM:615716
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Failure to thrive, Hypopituitarism, Decreased thyroid-stimulating hormone... OMIM:613038
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Mandibular prognathia, Macroglossia, Bulbous nose, Tented upper lip vermi... ORPHA:261144
5Q14.3 Microdeletion Syndrome
Anteverted nares, Open mouth, Short philtrum, Motor stereotypy, Short nose ORPHA:228384
Momo Syndrome
Wide nasal base, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip v... ORPHA:2563
Thanatophoric Dysplasia Type 2
Platyspondyly, Ventriculomegaly, Encephalocele, Hydrocephalus, Macrocephaly, Short stature, Holop... ORPHA:93274
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Cornelia De Lange Syndrome 5
Highly arched eyebrow, Ventriculomegaly, Retrognathia, Postnatal growth retardation, Long eyelash... OMIM:300882
Mast Cell Sarcoma
Hepatomegaly, Sarcoma, Splenomegaly ORPHA:66661
Peripheral Cone Dystrophy
Pallor OMIM:609021
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Verheij Syndrome
Branchial cyst, Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect, S... OMIM:615583
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Umbilical hernia, Frontal bossing, Hydrocephalus, Shoulder dislocation, Scoliosis, Kyphosis ORPHA:2181
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Malar flattening, Hypoplasia of the zygomatic bone, Short nose ORPHA:2835
Acrofacial Dysostosis, Weyers Type
Tessier cleft, Advanced eruption of teeth, Mild short stature ORPHA:952
Primary Erythromelalgia
Hypothermia ORPHA:90026
Crouzon Syndrome
Hypoplasia of the maxilla, Hypopigmented skin patches, Multiple suture craniosynostosis, Melanocy... ORPHA:207
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Delayed eruption of teeth, Abnormal dental enamel morpholo... ORPHA:2050
Chromosome 16Q22 Deletion Syndrome
Highly arched eyebrow, Growth delay, Postnatal growth retardation, Micrognathia, Wormian bones, S... OMIM:614541
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Growth delay, Pallor OMIM:613561
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Hip dislocation, Lumbar hyperlordosis, Microcephaly, Short stature, Scoliosis, Kyphosis OMIM:616756
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Platyspondyly, Anisospondyly, Thoracic kyphosis, Micrognathia, Delayed patellar ossification, Ant... ORPHA:163649
Cherubism
Marcus Gunn pupil, Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligo... OMIM:118400
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Thin vermilion border, Narrow mouth, Short nose ORPHA:2370
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Wide nasal bridge, Depressed nasal bridge, Short nose, Bulbous nose, Overfriendliness, Aggressive... ORPHA:369891
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Abnormal fingernail morphology, Hypoplastic toenails, Low posterior hairline, Hydr... ORPHA:2701
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypothermia, Limb hypertonia, Inguinal hernia, Joint contracture OMIM:614498
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Microcephaly, Hyperlordosis, Short stature, Scoliosis, Kyphosis, Spinal rigidity OMIM:617404
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Scheuermann-like vertebral changes, Thickened calvaria, Microceph... OMIM:301900
Thanatophoric Dysplasia
Platyspondyly, Ventriculomegaly, Disproportionate short-limb short stature, Intrauterine growth r... ORPHA:2655
Seckel Syndrome 1
Dental malocclusion, Dental crowding, Selective tooth agenesis, Prominent nose, Micrognathia, Ena... OMIM:210600
Benign Paroxysmal Torticollis Of Infancy
Pallor, Torticollis ORPHA:71518
Neural Tube Defects, Susceptibility To
Asymmetry of spinal facet joints, Absence of the sacrum, Myelomeningocele, Hydrocephalus, Spina b... OMIM:182940
Adenylosuccinase Deficiency
Inability to walk, Inappropriate laughter, Anteverted nares, Gait ataxia, Self-mutilation, Opisth... OMIM:103050
Zimmermann-Laband Syndrome
Bifid uvula, Bulbous nose, Micrognathia, Wide mouth, Supernumerary tooth, Hypodontia, Macroglossi... ORPHA:3473
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Elbow flexion contracture, Inability to walk, Obesity, Hypothermia, Hip contracture, Abnor... OMIM:618493
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Long philtrum, Micrognathia, Prominent nasal bridge, Thin upper lip vermilion, S... OMIM:613544
Thanatophoric Dysplasia Type 1
Platyspondyly, Wide anterior fontanel, Ventriculomegaly, Lethal short-limbed short stature, Abnor... ORPHA:1860
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Downturned corners of mouth, Bulbous nose, Obesity, Open mouth, Tented up... OMIM:618430
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Depressed nasal ridge, Retrognathia, Postnatal growth retardation, Inapp... OMIM:156200
Constricting Bands, Congenital
Tessier cleft, Encephalocele, Cleft palate, Ectopia cordis OMIM:217100
Bile Acid Conjugation Defect 1
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... OMIM:619232
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Wide nasal bridge, Narrow palate, Retrognathia, Long philtrum, Obesity, Micrognathia, Narrow mout... OMIM:620250
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Pallor, Hydrocephalus, Pericarditis ORPHA:163596
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Self-injurious behavior, Depressed nasal bridge, Failure to thrive, Intrauterine growth retardati... OMIM:619833
Muenke Syndrome
Attention deficit hyperactivity disorder, Dental malocclusion, Malar flattening, High palate OMIM:602849
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Microcephaly, Broad eyebrow, Hydrocephalus, Synophrys OMIM:618302
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... OMIM:210500
Absent Eyebrows And Eyelashes With Impaired Intellectual Development
Convex nasal ridge, Short nose OMIM:200130
Chromosome 3Q29 Duplication Syndrome
Wide nasal bridge, Bulbous nose, Obesity, Short nose OMIM:611936
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Edinburgh Malformation Syndrome
Frontal hirsutism, Hydrocephalus OMIM:129850
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus, Macrocephaly, Frontal bossing ORPHA:2185
Intellectual Developmental Disorder, Autosomal Dominant 26
Highly arched eyebrow, Umbilical hernia, Intrauterine growth retardation, Thick eyebrow, Microgna... OMIM:615834
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Wide nasal bridge, Bulbous nose, Anteverted nares, Micrognathia, Open mouth, Thin upper lip vermi... OMIM:613604
Miller-Dieker Syndrome
Anteverted nares, Abnormal upper lip morphology, Short nose ORPHA:531
Distal Duplication 18Q
Choanal atresia, Carious teeth, Abnormal dental morphology, Anteverted nares, Prominent nasal bri... ORPHA:1716
Auriculocondylar Syndrome
Mandibular condyle aplasia, Bifid uvula, Microglossia, Dental malocclusion, Dental crowding, Abno... ORPHA:137888
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Abnormal palate morphology, Micrognathia, Narrow mouth, Short nose ORPHA:1495
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect, Spina bifida, Anencephaly, Non-midline cleft o... ORPHA:2476
Short Syndrome
Wide nasal bridge, Dental malocclusion, Downturned corners of mouth, Underdeveloped nasal alae, D... OMIM:269880
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Mandibular prognathia, Hypertrichosis, Prominent metopic ridge, Scoliosis, Kyphosis, Synophrys ORPHA:85317
16P12.1P12.3 Triplication Syndrome
High, narrow palate, Failure to thrive, Long philtrum, Retrognathia, Bulbous nose, Thin vermilion... ORPHA:485405
Acromelic Frontonasal Dysostosis
Midline facial cleft, Encephalocele, Cleft palate, Submucous cleft soft palate OMIM:603671
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Ele... OMIM:603471
Myopathy, Myofibrillar, 8
High palate, Micrognathia, Dysphagia, Dental malocclusion OMIM:617258
Cleidocranial Dysplasia, Recessive Form
Severe short stature, Brachycephaly OMIM:216330
Anauxetic Dysplasia 3
Platyspondyly, Severe short stature, High anterior hairline, Plagiocephaly, Sparse scalp hair, Sm... OMIM:618853
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Plagiocephaly, Camptodactyly of finger, Intrauterine growth retardation, Brachy... ORPHA:272
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sparse scalp hair, Sparse eyebrow, Trigonocephaly, Scaphocephaly, Micrognathia, Hypoplastic toena... ORPHA:459061
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm... OMIM:602347
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Severe short stature, Sparse hair, Alopecia, Synostosis of carpal bones, Kyphosis, Moderate postn... ORPHA:1005
Hallermann-Streiff Syndrome
High, narrow palate, Narrow palate, Natal tooth, Dental malocclusion, Underdeveloped nasal alae, ... OMIM:234100
Oculomaxillofacial Dysostosis
Short stature, Cleft palate, Tessier cleft ORPHA:1794
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Broad nasal tip, Micrognathia, Mild postnatal growth retardation, Hyper... ORPHA:530983
Diamond-Blackfan Anemia 8
Wide nasal bridge, Thick upper lip vermilion, Short nose OMIM:612563
Zimmermann-Laband Syndrome 3
Facial hypertrichosis, Small nail, Hypertrichosis, Long eyelashes, Thick eyebrow, Absent toenail,... OMIM:618658
Intermediate Osteopetrosis
Abnormality of the dentition, Dental malocclusion, Abnormal dental morphology, Osteosclerosis of ... ORPHA:210110
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Postnatal growth retardation, Brachycephaly, Mandibular prognathia OMIM:309545
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Hypothermia OMIM:616501
Metatropic Dysplasia
Severe short stature, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Camp... ORPHA:2635
Houge-Janssens Syndrome 2
Abnormal hair whorl, Ventriculomegaly, Plagiocephaly, Microcephaly, Hydrocephalus, Scoliosis, Pro... OMIM:616362
Kabuki Syndrome 2
Broad nasal tip, Natal tooth, Dental malocclusion, Short columella, Depressed nasal tip, Microgna... OMIM:300867
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Hydrocephalus, Macrocephaly, Craniosynostosis, Frontal bossing ORPHA:380
Bresek Syndrome
Alopecia, Plagiocephaly, Growth delay, Intrauterine growth retardation, Microcephaly, Hydrocephal... ORPHA:85284
Cyclic Vomiting Syndrome
Pallor, Growth delay, Cardiomyopathy OMIM:500007
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Long philtrum, Obesity, Anteverted nares, Short columella, Micrognathia, ... ORPHA:171839
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Wide nasal bridge, Microretrognathia, Carious teeth, Dental malocclusion OMIM:615560
Supernumerary Nostril
Tessier cleft ORPHA:141096
Encephalopathy Due To Sulfite Oxidase Deficiency
Long philtrum, Short nose, Thick vermilion border ORPHA:833
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Severe short stature, Mandibular prognathia, Delayed cranial suture closure, Abnormality of the w... ORPHA:2511
Cebalid Syndrome
Depressed nasal bridge, Depressed nasal ridge, Anteverted nares, Polyphagia, High palate, Short nose OMIM:618774
Dandy-Walker Malformation With Postaxial Polydactyly
Microretrognathia, Dilated fourth ventricle, Hydrocephalus, Macrocephaly, Dolichocephaly, Frontal... OMIM:220220
Frontonasal Dysplasia 3
Tessier cleft, Cleft palate OMIM:613456
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Alexander Disease
Self-injurious behavior, Precocious puberty, Failure to thrive, Chorea, Hypothermia, Short neck, ... ORPHA:58
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia ORPHA:276556
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Fever, Decreased circulating aldosterone level, Elevated serum 11-deoxycortiso... ORPHA:556037
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Severe short stature, Abnormality of the nail, Knee flexion contracture, Hip contr... OMIM:313420
Pterygium Colli, Isolated
Short nose OMIM:177990
Endosteal Hyperostosis, Autosomal Dominant
Torus palatinus, Dental malocclusion OMIM:144750
1P21.3 Microdeletion Syndrome
Self-injurious behavior, Broad nasal tip, Obesity, Abnormal eating behavior, Micrognathia, Self-m... ORPHA:293948
Oculocerebrocutaneous Syndrome
Tessier cleft, Orofacial cleft, Hydrocephalus ORPHA:1647
Elsahy-Waters Syndrome
High palate, Wide nose, Hypoplasia of the maxilla, Impacted tooth, Bulbous nose, Thin upper lip v... OMIM:211380
Adult-Onset Autosomal Dominant Leukodystrophy
Temperature instability, Gait ataxia, Hypothermia, Dysmetria, Distal sensory impairment, Gait dis... ORPHA:99027
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Turricephaly, Brachycephaly, Hy... ORPHA:93262
Chromosome 3Pter-P25 Deletion Syndrome
Highly arched eyebrow, Flat occiput, Retrognathia, Trigonocephaly, Postnatal growth retardation, ... OMIM:613792
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Plagiocephaly, Elbow flexion contracture, Scaphocephaly, Micrognathia,... ORPHA:1143
Odontochondrodysplasia
Depressed nasal bridge, Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia, Short... ORPHA:166272
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Broad-based gait, Intrauterine growth retardation, Micrognathia, Anteverted nares, Proportionate ... ORPHA:391408
Branchiogenic-Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst, Submucous cleft hard palate OMIM:609166
Albers-Schönberg Osteopetrosis
Carious teeth, Joint dislocation, Mandibular osteomyelitis, Macrocephaly, Genu valgum, Hydrocepha... ORPHA:53
Harel-Yoon Syndrome
Inability to walk, Micrognathia, Ataxia, Dystonia, Mandibular prognathia, Short nose OMIM:617183
Periventricular Nodular Heterotopia 7
Microretrognathia, Dental crowding, Failure to thrive, Anteverted nares, Micrognathia, Narrow mou... OMIM:617201
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Depressed nasal bridge, Failure to thrive, Anteverted nares, Micrognathia, Protruding tongue, Mal... OMIM:242860
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macrocephaly, Hydrocephalus, Kyphoscoliosis OMIM:300886
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Low anterior hairline, Microcephaly, Brachycephaly, Short neck, Short stature ORPHA:320385
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Dentinogenesis imperfecta, Disproportionate short-limb short stature, Decreased ca... OMIM:259440
Juvenile Huntington Disease
Broad-based gait, Chorea, Gait ataxia, Weight loss, Hyperactivity, Ataxia, Bradykinesia, Progress... ORPHA:248111
Acute Myelomonocytic Leukemia
Abnormal bleeding, Pallor ORPHA:517
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Obesity, Exercise-induced rhabdomyolysis, Hypothermi... ORPHA:26793
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Bulbous nose, Micro... OMIM:190350
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Hypothermia... ORPHA:226307
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Micrognathia, Short attention span... OMIM:608747
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... OMIM:617394
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly ORPHA:33402
Acalvaria
Holoprosencephaly, Calvarial skull defect, Hydrocephalus, Spina bifida ORPHA:945
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia ORPHA:276575
Methylmalonic Acidemia With Homocystinuria
Microcephaly, Hydrocephalus ORPHA:26
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Menkes Disease
Alopecia, Sparse hair, Hypothermia, Brittle hair OMIM:309400
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Inability to walk, Dysmetria, Ataxia, Dystonia, Mandibular prognathia, Delayed early-childhood so... OMIM:618087
Cataract-Intellectual Disability-Hypogonadism Syndrome
Micrognathia, Abnormal toenail morphology, Low posterior hairline, Microcephaly, Brachycephaly, H... ORPHA:1387
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia ORPHA:276580
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Micrognathia, Thin upper lip vermilion, Smooth philtrum, Slender nose, Wide mouth, Short nose OMIM:615419
Rheumatic Fever
Erythema, Epistaxis, Abnormal heart valve morphology, Pallor, Abnormal aortic valve morphology, A... ORPHA:3099
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Spinal dysraphism, Small nail, Abnormal fingernail morphology, Intrauterin... ORPHA:1908
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, ... ORPHA:2180
Au-Kline Syndrome
Bifid nasal tip, Bifid uvula, Dental malocclusion, Failure to thrive, Underdeveloped nasal alae, ... OMIM:616580
Cardiofaciocutaneous Syndrome 1
Depressed nasal bridge, Abnormality of the dentition, Dental malocclusion, Failure to thrive, Ope... OMIM:115150
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Short stature, Scoliosis, Frontal bossing, Kyphosis ORPHA:276630
Acrocephalopolydactyly
Depressed nasal ridge, Short nose ORPHA:221054
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Macrocephaly at birth, Occipital encephalocele, Hydrocephalus ORPHA:324416
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Horizontal eyebrow, Long eyelashes, Micrognathia, Brachycephaly, Hydrocephalus,... OMIM:609757
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Delirium, Restlessness... ORPHA:100924
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finger, Congenita... OMIM:130060
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Microglossia, Failure to thrive, Underdeveloped nasal alae, Cleft mandible... ORPHA:364577
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Carious teeth, Camptodactyly of finger, Joint contracture of the 5th finger, Brittle... ORPHA:1883
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Elbow flexion contracture, Knee flexion contracture, Hip contracture, Hyperlordosis, Scoliosis, K... OMIM:600175
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Delayed eruption of teeth, Hypogonadism, Postnatal growth retardation, Intraut... ORPHA:73272
Biemond Syndrome Ii
Short stature, Hydrocephalus OMIM:210350
Osteogenesis Imperfecta, Type Xx
Highly arched eyebrow, Plagiocephaly, Disproportionate short-limb short stature, Sparse lateral e... OMIM:618644
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly, Abnormal mitral valve morphology, Short stature, Pulmonic stenosis ORPHA:1131
Robinow Syndrome
Flared nostrils, Depressed nasal bridge, Tooth malposition, Broad nasal tip, Dental malocclusion,... ORPHA:97360
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Abnormality of the dentition, Dental crowding, Failure to thrive, Eruption failure, Long philtrum... ORPHA:476126
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Short stature, Kyphosis OMIM:618453
Choreoacanthocytosis
Mental deterioration, Temporomandibular joint crepitus, Resting tremor, Limb dystonia, Emotional ... ORPHA:2388
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Low anterior hairline, Microcephaly, Brachycephaly, Short neck, Short stature OMIM:615031
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Recurrent upper respiratory tract infections, Retrognathia, Anteverted na... OMIM:614069
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Congenital hip dislocation, Ventriculomegaly, Delayed eruption of teeth, Dislocation of the femor... OMIM:619797
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Postnatal growth retardation, Decreased circulating aldosterone level, Elevate... ORPHA:556030
Pontocerebellar Hypoplasia, Type 2E
Failure to thrive, Micrognathia, Irritability, Opisthotonus, Short stature, Short nose, Wide nose OMIM:615851
Craniofrontonasal Dysplasia
Plagiocephaly, Ridged fingernail, Camptodactyly of finger, Low posterior hairline, Microcephaly, ... ORPHA:1520
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:609813
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Small for gestational age, Short nose, Stereotypical hand wringing ORPHA:289266
Hereditary Sensory And Autonomic Neuropathy Type 4
Pain insensitivity, Hyperesthesia, Atypical scarring of skin, Unexplained fevers, Somatic sensory... ORPHA:642
Recombinant Chromosome 8 Syndrome
Joint contracture of the hand, Ventriculomegaly, Growth delay, Secondary microcephaly, Postnatal ... OMIM:179613
Intellectual Disability-Strabismus Syndrome
Depressed nasal bridge, Failure to thrive, Decreased response to growth hormone stimulation test,... ORPHA:363528
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Short stature, Secondary microcephaly, Hydrocephalus, Macrocephaly OMIM:618174
Takenouchi-Kosaki Syndrome
Flared nostrils, Wide nasal bridge, Dental malocclusion, Downturned corners of mouth, Long philtr... OMIM:616737
Robinow Syndrome, Autosomal Dominant 3
Wide nasal bridge, Depressed nasal bridge, Cleft lip, Dental malocclusion, Downturned corners of ... OMIM:616894
Leukodystrophy, Hypomyelinating, 10
Failure to thrive, Long philtrum, Bulbous nose, Anteverted nares, Malar flattening, Smooth philtr... OMIM:616420
Sclerosteosis 1
Wide nasal bridge, Depressed nasal bridge, Tooth malposition, Dental malocclusion, Facial palsy s... OMIM:269500
Zimmermann-Laband Syndrome 2
Kyphosis, Hypertrichosis, Long eyelashes, Thick eyebrow, Hirsutism, Short neck, Anonychia, Short ... OMIM:616455
Pallister-Hall-Like Syndrome
Occipital encephalocele, Micrognathia, Microcephaly, Hydrocephalus, Macrocephaly, Short stature, ... OMIM:241800
Congenital Heart Defects And Ectodermal Dysplasia
High anterior hairline, Frontal bossing, Microcephaly, Brachycephaly, Medial flaring of the eyebr... OMIM:617364
Pentasomy X
Plagiocephaly, Camptodactyly of finger, Micrognathia, Radioulnar synostosis, Microcephaly, Delaye... ORPHA:11
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Trigonocephaly 1
Wide nasal bridge, High, narrow palate, Long philtrum, Short nose OMIM:190440
Temple Syndrome
Frontal bossing, Intrauterine growth retardation, Micrognathia, Hydrocephalus, Short stature, Rel... OMIM:616222
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Rhizomelia, Intrauterine growth retardation, Hydrocephalus, Macrocephaly, Short st... OMIM:300863
Hamamy Syndrome
Wide nasal bridge, Dental malocclusion, Long philtrum, Anteverted nares, Micrognathia, Thin upper... OMIM:611174
Weismann-Netter Syndrome
Severe short stature, Delayed eruption of permanent teeth, Horizontal sacrum, Calvarial hyperosto... OMIM:112350
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Joint contracture of the hand, Retrognathia, Umbilical hernia, Micrognathi... ORPHA:352490
Barber-Say Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Dental malocclusion, Velopharyngeal insufficien... OMIM:209885
Evans Syndrome
Epistaxis, Bruising susceptibility, Pallor, Petechiae, Syncope ORPHA:1959
Monosomy 18P
Alopecia, Carious teeth, Micrognathia, Kyphoscoliosis, Low posterior hairline, Microcephaly, Brac... ORPHA:1598
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Short stature, Progressive microcephaly, Kyphosis OMIM:620007
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ventriculomegaly, Intrauterine growth retardation, Micrognathia, Abnormality of the cervical spin... ORPHA:48431
Nabais Sa-De Vries Syndrome, Type 1
Self-injurious behavior, Depressed nasal bridge, Bulbous nose, Prominent nasal bridge, Smooth phi... OMIM:618828
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Pachygyria, Aggressive behavior, Attention defic... OMIM:619827
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Brachyturricephaly, Frontal bossing, Brachycephaly, Hydrocephalus, Abnormal sha... OMIM:218350
O'Donnell-Luria-Rodan Syndrome
Dolichocephaly, Kyphosis, Macrocephaly OMIM:618512
Cerebellar-Facial-Dental Syndrome
Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Dental malocclusion, Failu... ORPHA:444072
Chromosome 3Q13.31 Deletion Syndrome
Ventriculomegaly, Alobar holoprosencephaly, Plagiocephaly, Brachycephaly, Dolichocephaly, Kyphosis OMIM:615433
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Severe Neurodegenerative Syndrome With Lipodystrophy
Generalized lipodystrophy, Hyperinsulinemia, Gait ataxia, Reduced subcutaneous adipose tissue, My... ORPHA:363400
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Mandibular prognathia, Short nose, Wide nose ORPHA:2831
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Microcephaly, Brachycephaly, Plagiocephaly, Flat occiput ORPHA:2898
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Retrognathia, Thick nasal alae, Micrognathia, Dysphagia, Short nose ORPHA:163961
Intellectual Developmental Disorder, Autosomal Dominant 23
Micrognathia, Low anterior hairline, Brachycephaly, Hyperlordosis, Scoliosis, Kyphosis, Sacral di... OMIM:615761
Hall-Riggs Syndrome
Platyspondyly, Intrauterine growth retardation, Hypoplasia of the primary teeth, Microcephaly, En... OMIM:234250
Aromatic L-Amino Acid Decarboxylase Deficiency
Temperature instability, Intermittent hypothermia, Lethargy, Tongue thrusting, Limb hypertonia, T... OMIM:608643
Young-Onset Parkinson Disease
Depression, Hyposmia, Bradykinesia, Frontal lobe dementia, Gait imbalance, Short attention span, ... ORPHA:2828
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Failure to thrive, Increased circulating cortico... OMIM:610600
Lateral Meningocele Syndrome
Coarse hair, Umbilical hernia, Micrognathia, Biconcave vertebral bodies, Thickened calvaria, Worm... OMIM:130720
Chopra-Amiel-Gordon Syndrome
High anterior hairline, Postnatal growth retardation, Microcephaly, Brachycephaly, Macrocephaly, ... OMIM:619504
Bethlem Myopathy 2
Kyphosis, Scoliosis, Hip dislocation OMIM:616471
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Long philtrum, Micrognathia, Malar flattening, Short nose ORPHA:93328
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Depressed nasal bridge, Long philtrum, Bulbous nose, Anteverted nares, Tented upper lip vermilion... OMIM:614105
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology, Generalized hyperpigmentation, Abnormality of retinal pigmenta... ORPHA:816
Autosomal Recessive Spondylocostal Dysostosis
Abnormal form of the vertebral bodies, Camptodactyly of finger, Umbilical hernia, Intrauterine gr... ORPHA:2311
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Fever, Hypothermia, Lethargy, Weight loss, Anorexia ORPHA:20
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Short nasal septum, Short nose OMIM:302950
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Cleft palate, Long philtrum, Short nose ORPHA:90653
Craniosynostosis, Herrmann-Opitz Type
Intrauterine growth retardation, Micrognathia, Malar flattening, Cognitive impairment, Convex nas... ORPHA:2145
Non-Distal Duplication 13Q
Abnormality of the dentition, Long philtrum, Micrognathia, Everted lower lip vermilion, Thin verm... ORPHA:1702
Malan Syndrome
Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption... OMIM:614753
Acrodysostosis 1 With Or Without Hormone Resistance
Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Dental malocclusion, Delayed ... OMIM:101800
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Failure to thrive, Ragge... ORPHA:17
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Depressed nasal bridge, Natal tooth, Inability to walk, Micrognathia, Dysphagia, Motor stereotypy... OMIM:617802
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Broad nasal tip, Dental malocclusion, Retrognathia, Diastema, Obesity, M... ORPHA:96121
Codas Syndrome
Depressed nasal bridge, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal de... ORPHA:1458
Pierpont Syndrome
Ventriculomegaly, High anterior hairline, Brachycephaly, Short neck, Primary microcephaly, Scoliosis ORPHA:487825
Ritscher-Schinzel Syndrome 1
Intrauterine growth retardation, Prominent occiput, Micrognathia, Low posterior hairline, Brachyc... OMIM:220210
Congenital Disorder Of Glycosylation, Type Iu
Thin upper lip vermilion, High palate, Micrognathia, Short nose OMIM:615042
Osteopathia Striata-Cranial Sclerosis Syndrome
Severe short stature, Delayed eruption of teeth, Retrognathia, Facial hyperostosis, Delayed crani... ORPHA:2780
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Congenital hip dislocation, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Kypho... OMIM:618291
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Short stature, Postnatal growth retardation, Truncal obesity, Abdominal obesity OMIM:618160
Achondrogenesis
Anteverted nares, Micrognathia, Long philtrum, Short nose ORPHA:932
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventriculomegaly, Knee flexion contracture, Thoracic scoliosis, Hydrocephalus, Macrocephaly, Fron... OMIM:603387
Congenital Toxoplasmosis
Ventriculomegaly, Intrauterine growth retardation, Abnormality of retinal pigmentation, Microceph... ORPHA:858
Optic Atrophy 1
Pallor OMIM:165500
14Q24.1Q24.3 Microdeletion Syndrome
Wide nasal bridge, Long philtrum, Prominent nasal bridge, Thin upper lip vermilion, Smooth philtr... ORPHA:401935
Tetrasomy 18P
Thin vermilion border, Narrow mouth, Long philtrum, Short nose ORPHA:3307
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity OMIM:300718
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Severe short stature, Rhizomelia, Disproportionate short stature, Lumbar hyperlord... OMIM:616482
Mitochondrial Dna-Associated Leigh Syndrome
Failure to thrive, Fever, Chorea, Gait ataxia, Ragged-red muscle fibers, Hypothermia, Ataxia, Dys... ORPHA:255210
Waardenburg Syndrome Type 1
Mandibular prognathia, Hypopigmented skin patches, White hair, Premature graying of hair, Abnorma... ORPHA:894
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Intrauterine growth retardation, CSF lymphocytic pleiocytosis, Progressive micr... OMIM:610333
Acrofrontofacionasal Dysostosis 2
Sacral dimple, Microcephaly, Brachycephaly, Short stature, Widow's peak, Wide anterior fontanel OMIM:239710
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Ventriculomegaly, Hypoplastic acetabulae, Short stature, Anterior beaking of lumba... OMIM:230650
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:94080
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice OMIM:605479
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Holoprosencephaly-Craniosynostosis Syndrome
Plagiocephaly, Abnormality of retinal pigmentation, Hypoplastic vertebral bodies, Microcephaly, B... ORPHA:2163
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Depressed nasal bridge, Delayed eruption of teeth, Underdeveloped nasal alae, Anteverted nares, O... OMIM:615866
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Wide nasal bridge, Abnormal temper tantrums, Dental malocclusion, Long philtrum, Micrognathia, Ag... ORPHA:73223
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Inappropriate laughter, Obesity, Polyphagia, Hyperactivity, Ataxia, Hypopigment... ORPHA:411515
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Plagiocephaly, Abnormal form of the vertebral bodies, Elbow dislocation, A... ORPHA:2916
Trisomy 17P