| Bulimia Nervosa, Susceptibility To |
|
Bulimia |
OMIM:607499 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Syndactyly, Hydrocephalus, Postaxial hand polydactyly |
OMIM:615938 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Cerebellar dysplasia, Neural tube defect |
OMIM:615041 |
| Synpolydactyly 1 |
|
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... |
OMIM:186000 |
| Chudley-Mccullough Syndrome |
|
Ventriculomegaly, Cerebellar dysplasia, Cerebellar hypoplasia, Dysplastic corpus callosum, Hydroc... |
OMIM:604213 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... |
OMIM:174500 |
| Syndactyly Type 2 |
|
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... |
ORPHA:93403 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... |
ORPHA:3246 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Intrauterine growth retardation, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Edema |
OMIM:616570 |
| Renal Glucosuria |
|
Polyphagia, Polydipsia |
OMIM:233100 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Postaxial foot polydactyly, Preaxial hand polydac... |
ORPHA:380 |
| Acropectorovertebral Dysplasia |
|
Toe syndactyly, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal bones, Short ... |
OMIM:102510 |
| Gombo Syndrome |
|
Microcephaly, Delayed puberty, Microphthalmia |
OMIM:233270 |
| Triphalangeal Thumb With Polysyndactyly |
|
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... |
OMIM:190605 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Ventriculomegaly, Cerebellar agenesis, Cerebellar hypoplasia, Hydrocephalus, Hol... |
OMIM:617967 |
| Joubert Syndrome 15 |
|
Exencephaly, Preaxial polydactyly |
OMIM:614464 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly |
OMIM:234280 |
| Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia |
OMIM:222100 |
| Craniotelencephalic Dysplasia |
|
Frontal bossing, Cerebellar hypoplasia, Microcephaly, Frontal encephalocele, Microphthalmia, Cran... |
ORPHA:1528 |
| Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Y-shaped metatarsals, Bro... |
OMIM:175700 |
| Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... |
ORPHA:3269 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcephaly, Brachycephaly, Microphthalmia, Short stature, Growth delay |
ORPHA:2528 |
| Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spina bifida, Postaxial hand polydactyly, Ho... |
ORPHA:945 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microcephaly, Microphthalmia |
OMIM:616335 |
| Holoprosencephaly 5 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... |
OMIM:609637 |
| Polydactyly, Postaxial, Type A1 |
|
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... |
OMIM:174200 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Hypoplasia of the pons, Intrauterine growth retardation, Cerebellar hypoplasi... |
OMIM:616171 |
| Syndactyly, Type Iv |
|
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... |
OMIM:186200 |
| Hydrolethalus Syndrome 2 |
|
Ventriculomegaly, Postaxial foot polydactyly, Preaxial foot polydactyly, Agenesis of corpus callo... |
OMIM:614120 |
| Band Heterotopia |
|
Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Agenesis of corpus callosum |
OMIM:600348 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar atrophy, Abnormal lateral ventricle morphology, Intrauterine growth retardation, Hyper... |
ORPHA:488635 |
| Wahab Syndrome |
|
Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... |
OMIM:615170 |
| Acquired Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:95626 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Stillbirth, Syndactyly |
ORPHA:294975 |
| Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt... |
ORPHA:957 |
| Camptosynpolydactyly, Complex |
|
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly |
OMIM:607539 |
| Lissencephaly 4 |
|
Cerebellar hypoplasia, Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
| Craniotelencephalic Dysplasia |
|
Cerebellar hypoplasia, Frontal encephalocele, Microphthalmia, Craniosynostosis, Optic nerve hypop... |
OMIM:218670 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
| Kleine-Levin Syndrome |
|
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... |
ORPHA:33543 |
| Gómez-López-Hernández Syndrome |
|
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Turricephaly, Brachycephaly, Short ... |
ORPHA:1532 |
| Congenital Hydrocephalus |
|
Ventriculomegaly, Colpocephaly, Hydrocephalus |
ORPHA:2185 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia, Patent ductus arteriosus, Umbilical hernia |
OMIM:615297 |
| Ulnar Hemimelia |
|
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... |
ORPHA:93320 |
| Polydactyly, Postaxial, Type A5 |
|
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly |
OMIM:263450 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Hereditary Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:30925 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... |
ORPHA:157801 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Abnormal calvaria morphology, Microphthalmia |
ORPHA:2432 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Hand clenching, Cerebellar vermis hypoplasia, Congenital hip dislocation, Ventriculomegaly, Later... |
OMIM:618291 |
| Cofs Syndrome |
|
Intrauterine growth retardation, Microcephaly, Aplasia/Hypoplasia of the cerebellum, Microphthalm... |
ORPHA:1466 |
| Craniosynostosis 6 |
|
Plagiocephaly, Cerebellar atrophy, Parietal foramina, Right unilambdoid synostosis, Bicoronal syn... |
OMIM:616602 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Coronal craniosynostosis, Intrauterine growth retardation, Oligohydramnios, Calvarial skull defec... |
ORPHA:228390 |
| Cleidocranial Dysplasia, Recessive Form |
|
Severe short stature, Brachycephaly |
OMIM:216330 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Microcephaly, Brachycephaly, Bradycardia, Flat occiput |
ORPHA:2898 |
| Non-Distal Duplication 10Q |
|
Microcephaly, Brachycephaly, Short stature, Frontal bossing, Aplasia/Hypoplasia affecting the eye |
ORPHA:1695 |
| Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... |
OMIM:605289 |
| Spinal Muscular Atrophy With Impaired Intellectual Development |
|
Syndactyly |
OMIM:271109 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lambdoidal craniosynostosis, Optic nerve hypoplasia, Hypoplasia of the pons, Bicoronal synostosis... |
OMIM:618736 |
| Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Adducted thumb |
ORPHA:324422 |
| Aplasia Cutis Congenita |
|
Toe syndactyly, Spinal dysraphism, Finger syndactyly |
ORPHA:1114 |
| Nevus Comedonicus Syndrome |
|
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta |
ORPHA:64754 |
| Congenital Varicella Syndrome |
|
Microcephaly, Intrauterine growth retardation, Microphthalmia |
ORPHA:291 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Finger syndactyly, Micromelia, Intrauterine growth retardation, Encephalocele,... |
ORPHA:1908 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation, Overlapping fingers, Cerebellar hypoplasia, Talipes equinovarus, Ro... |
OMIM:618266 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Cardiomyopathy, Cerebellar dysplasia, Cerebellar hypoplasia, Microc... |
OMIM:613155 |
| Split-Hand/Foot Malformation 1 |
|
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... |
OMIM:183600 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ventriculomegaly, Absent thumb, Lateral ventricle dilatation, Bowed forearm bones, Hydrocephalus,... |
OMIM:602200 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Single transverse palmar crease, Neonatal death, Cerebellar hypoplasia, Talipes ... |
OMIM:236500 |
| Seckel Syndrome 2 |
|
Cerebellar hypoplasia, Microcephaly, Cerebellar calcifications, Primary microcephaly, Microphthal... |
OMIM:606744 |
| Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly |
OMIM:185900 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Cerebellar vermis hypoplasia, Plagiocephaly, Dysgenesis of the cerebellar vermis, Umbilical herni... |
OMIM:617751 |
| Laurin-Sandrow Syndrome |
|
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... |
ORPHA:2378 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615983 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polydactyly, Ventriculomegaly, Hydrocephalus, Syndactyly |
OMIM:602501 |
| Adenylosuccinate Lyase Deficiency |
|
Microcephaly, Brachycephaly, Flat occiput |
ORPHA:46 |
| 6P22 Microdeletion Syndrome |
|
Finger syndactyly, Hydrocephalus, Clinodactyly |
ORPHA:251046 |
| Central Diabetes Insipidus |
|
Polydipsia, Anorexia |
ORPHA:178029 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Primary microcephaly, Microphthalmia |
OMIM:615771 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Ventriculomegaly, Cerebellar atrophy, Intrauterine growth retardation, Colpocephaly, Hydrocephalus |
OMIM:616034 |
| Pfeiffer Syndrome |
|
Shortening of all middle phalanges of the fingers, Broad thumb, Chiari malformation, Finger synda... |
OMIM:101600 |
| Lissencephaly 8 |
|
Occipital encephalocele, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Retrocerebellar cyst |
OMIM:617255 |
| Microphthalmia/Coloboma 6 |
|
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos |
OMIM:613703 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... |
ORPHA:1892 |
| Nephronophthisis 9 |
|
Polydipsia |
OMIM:613824 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Cerebellar malformation, Occipital encephalocele, Microphthalmia |
ORPHA:324416 |
| Adams-Oliver Syndrome 2 |
|
Lateral ventricle dilatation, Single transverse palmar crease, Absent distal phalanges, Cerebella... |
OMIM:614219 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
| Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia |
OMIM:619468 |
| Pfeiffer Syndrome Type 1 |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hallux varus, Sh... |
ORPHA:93258 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly |
OMIM:600384 |
| Pierpont Syndrome |
|
Chiari malformation, Microcephaly, Brachycephaly, Microphthalmia, Short stature |
OMIM:602342 |
| Pierpont Syndrome |
|
Brachycephaly, Chiari malformation, Primary microcephaly, Microphthalmia |
ORPHA:487825 |
| Microphthalmia/Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microcephaly, Growth delay, Microphthalmia |
OMIM:278780 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventriculomegaly, Toe syndactyly, Chiari malformation, Finger syndactyly, Hand polydactyly, Aplas... |
ORPHA:60040 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Epiphyseal stippling, Neonatal death |
OMIM:614870 |
| Split-Hand/Foot Malformation 6 |
|
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot |
OMIM:225300 |
| Hartsfield Syndrome |
|
Craniosynostosis, Intrauterine growth retardation, Encephalocele, Microphthalmia |
ORPHA:2117 |
| Meckel Syndrome, Type 4 |
|
Agenesis of cerebellar vermis, Intrauterine growth retardation, Encephalocele, Bowing of the long... |
OMIM:611134 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microcephaly, Growth delay, Microphthalmia |
OMIM:274270 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... |
OMIM:610713 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Umbilical hernia, Intrauterine growth retardation, Microcephaly, Brachycephaly, Short stature |
OMIM:615834 |
| Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Brachycephaly |
ORPHA:404493 |
| Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Short stature, Microcephaly, Brachycephaly, Cerebellar atrophy |
ORPHA:320385 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Hypoplasia of the pons, Cardiomyopathy, Dilated fourth ventricle, Abnorm... |
ORPHA:370959 |
| Brachydactyly Type B |
|
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... |
ORPHA:93383 |
| Santos Syndrome |
|
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... |
OMIM:613005 |
| Aminopterin Syndrome Sine Aminopterin |
|
Umbilical hernia, Intrauterine growth retardation, Microcephaly, Brachycephaly, Short stature, Fr... |
OMIM:600325 |
| Congenital Toxoplasmosis |
|
Ascites, Microcephaly, Intrauterine growth retardation, Microphthalmia |
ORPHA:858 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Chiari malformation, Myelomeningocele, Agenesis of corpus callosum, Hydrocep... |
OMIM:207950 |
| Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly, Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Czeizel-Losonci Syndrome |
|
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Single transverse palmar... |
ORPHA:2437 |
| Meckel Syndrome, Type 8 |
|
Occipital encephalocele, Encephalocele, Anophthalmia, Microcephaly, Microphthalmia, Pericardial e... |
OMIM:613885 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation, Cerebellar vermis... |
ORPHA:397715 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Cerebellar hypoplasia, Talipes equinovarus, Colpocephaly |
ORPHA:401815 |
| Pelvis-Shoulder Dysplasia |
|
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Camptodactyly of finger, Mesomelic/rhi... |
ORPHA:2839 |
| Ring Chromosome 21 Syndrome |
|
Small hand, Clinodactyly, Narrow palm, Holoprosencephaly, Syndactyly |
ORPHA:1445 |
| Pontocerebellar Hypoplasia, Type 3 |
|
Cerebellar atrophy, Hypoplasia of the pons, Cerebellar hypoplasia, Brachycephaly, Progressive mic... |
OMIM:608027 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Encephalocele, Exencephaly, Broad hall... |
ORPHA:2211 |
| Bresek Syndrome |
|
Plagiocephaly, Intrauterine growth retardation, Neonatal death, Microcephaly, Microphthalmia, Gro... |
ORPHA:85284 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Frontonasal Dysplasia 2 |
|
Cerebellar vermis hypoplasia, Parietal foramina, Intrauterine growth retardation, Oligohydramnios... |
OMIM:613451 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
| Warburg Micro Syndrome 1 |
|
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Short stature |
OMIM:600118 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Finger ... |
ORPHA:1788 |
| Rhombencephalosynapsis |
|
Ventriculomegaly, Finger syndactyly, Fusion of the cerebellar hemispheres, Polydactyly, Abnormal ... |
ORPHA:59315 |
| Sporadic Fetal Brain Disruption Sequence |
|
Microcephaly, Plagiocephaly, Prominent occiput |
ORPHA:1665 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Short stature, Microcephaly, Cerebellar hypoplasia, Microphthalmia |
OMIM:251270 |
| Fibular Hemimelia |
|
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus... |
ORPHA:93323 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Pfeiffer Syndrome Type 2 |
|
Deviation of the thumb, Small hand, Toe syndactyly, Chiari malformation, Finger syndactyly, Broad... |
ORPHA:93259 |
| Congenital Disorder Of Glycosylation, Type Iiy |
|
Microcephaly, Brachycephaly |
OMIM:620200 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Brachydactyly Type B2 |
|
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... |
ORPHA:140908 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Thickened calvaria, Craniosynostosis, Brachycephaly |
ORPHA:178377 |
| Carpenter Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu... |
ORPHA:65759 |
| Cornelia De Lange Syndrome 2 |
|
Hypertrophic cardiomyopathy, Postnatal growth retardation, Intrauterine growth retardation, Micro... |
OMIM:300590 |
| Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
| Curry-Jones Syndrome |
|
Ventriculomegaly, Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot polyd... |
OMIM:601707 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Polyhydramnios, Frontal bossing, Patent ductus arteriosus, Microphthalmia |
ORPHA:2547 |
| Achondrogenesis, Type Ii |
|
Abnormally large globe, Disproportionate short-limb short stature, Brachycephaly, Disproportionat... |
OMIM:200610 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Short stature, Brachycephaly |
OMIM:300699 |
| Mmep Syndrome |
|
Microcephaly, Microphthalmia |
ORPHA:3434 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Chiari malformation, Umbilical hernia, Turricephaly, Brachycephaly, Craniosynostosis, Patent duct... |
ORPHA:171839 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Ventriculomegaly, Lateral ventricle dilatation, Dilated fourth ventricle, Single transverse palma... |
OMIM:613443 |
| Pentasomy X |
|
Plagiocephaly, Microcephaly, Delayed puberty, Short stature, Patent ductus arteriosus |
ORPHA:11 |
| Intellectual Developmental Disorder, X-Linked 1 |
|
Secondary microcephaly, Brachycephaly |
OMIM:309530 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Dilated cardiomyopathy, Plagiocephaly, Intrauterine growth retardation, Brachycephaly, Dolichocep... |
ORPHA:272 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microcephaly, Plagiocephaly, Growth delay, Microphthalmia |
OMIM:308350 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hypoplasia of the pons, Cerebellar dysplasia, Cerebellar hypoplasia, Microphthalmia, Cerebellar c... |
OMIM:615181 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Orbital encephalocele, Dandy-Walker malformation, Microphthalmia |
OMIM:164180 |
| Cat-Eye Syndrome |
|
Short stature, Intrauterine growth retardation, Microphthalmia |
ORPHA:195 |
| Xk Aprosencephaly Syndrome |
|
Polyhydramnios, Microcephaly, Microphthalmia |
ORPHA:3469 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Intrauterine growth retardation, Oligohydramnios, Turricephaly, Brachycephaly, Short stature, Cra... |
ORPHA:2145 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Postnatal growth retardation, Brachycephaly |
OMIM:309545 |
| Endocrine-Cerebroosteodysplasia |
|
Ventriculomegaly, Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Tibial bowing, Si... |
OMIM:612651 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Brachydactyly, Hydrocephalus |
OMIM:620156 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Lateral ventricle dilatation, Hypoplasia of the pons, Cerebellar hypoplasia, Talipes equinovarus,... |
OMIM:607596 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Trigonocephaly, Macular hypoplasia... |
OMIM:613792 |
| Microphthalmia, Syndromic 13 |
|
Short stature, Microcephaly, Microphthalmia |
OMIM:300915 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Dilated third ventricle, Hypoplasia of the pons, Lateral ventricle dilatation, ... |
OMIM:613154 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Chiari type I malformation, Plagiocephaly |
ORPHA:459074 |
| Potocki-Shaffer Syndrome |
|
Brachycephaly, Delayed puberty, Hypertension, Parietal foramina |
ORPHA:52022 |
| Craniofacial Dyssynostosis With Short Stature |
|
Brachyturricephaly, Chiari type I malformation, Brachycephaly, Short stature, Abnormal shape of t... |
OMIM:218350 |
| Bardet-Biedl Syndrome 9 |
|
Polyphagia, Polydipsia |
OMIM:615986 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... |
ORPHA:93322 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Neural tube defect, Microphthalmia |
OMIM:600776 |
| Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Microphthalmia, Platybasia, Frontal bossing, Cloverleaf skull |
ORPHA:93267 |
| Blepharocheilodontic Syndrome 1 |
|
Cutaneous syndactyly, Clinodactyly, Neural tube defect |
OMIM:119580 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Cerebellar hypoplasia, Microphthalmia |
OMIM:614830 |
| Alkuraya-Kucinskas Syndrome |
|
Hand clenching, Ventriculomegaly, Clinodactyly, Cerebellar dysplasia, Overlapping toe, Overlappin... |
OMIM:617822 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hypoplasia of the pons, Cerebellar dysplasia, Cerebellar cyst, Cerebellar hypoplasia, Microphthal... |
OMIM:613153 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Brachycephaly |
ORPHA:35099 |
| Joubert Syndrome 22 |
|
Agenesis of cerebellar vermis, Intrauterine growth retardation, Microphthalmia |
OMIM:615665 |
| Proximal Symphalangism |
|
Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact... |
ORPHA:3250 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot |
OMIM:313350 |
| Trisomy 13 |
|
Chiari malformation, Intrauterine growth retardation, Calvarial skull defect, Anophthalmia, Aplas... |
ORPHA:3378 |
| Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia |
OMIM:609054 |
| Microphthalmia/Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
| Fanconi Anemia, Complementation Group G |
|
Microcephaly, Growth delay, Microphthalmia |
OMIM:614082 |
| Monosomy 18P |
|
Lymphedema, Microcephaly, Brachycephaly, Microphthalmia, Short stature, Hypertension |
ORPHA:1598 |
| 2Q24 Microdeletion Syndrome |
|
Growth delay, Microphthalmia |
ORPHA:1617 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Ventriculomegaly, Intrauterine growth retardation, Acetabular dysplasia, Colpocephaly, Hydrocepha... |
OMIM:619833 |
| Femur-Fibula-Ulna Complex |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... |
ORPHA:2019 |
| Martsolf Syndrome 2 |
|
Camptodactyly, Overlapping toe, Lateral ventricle dilatation, Camptodactyly of finger |
OMIM:619420 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cerebellar hypoplasia, Secondary microcephaly, Microphthalmia, Neonatal death |
OMIM:613730 |
| Congenital Rubella Syndrome |
|
Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Microcephaly, Microphthalmia, Sh... |
ORPHA:290 |
| Terminal Osseous Dysplasia |
|
Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Cam... |
OMIM:300244 |
| Microphthalmia/Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
| Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Congenital hip dislocation, Ventriculomegaly, Finger syndactyly, ... |
ORPHA:1647 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1 |
|
Cerebellar hypoplasia, Plagiocephaly, Hypoplasia of the pons |
OMIM:607313 |
| Orofaciodigital Syndrome Ii |
|
Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Preaxial foot polydacty... |
OMIM:252100 |
| Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Secondary microcephaly, Abnormal cerebellum morphology, Microphthalmia, ... |
OMIM:618652 |
| Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Plagiocephaly, Increased nuchal translucency, Microcephaly, Brachycephaly, Polyhydramnios, Short ... |
OMIM:618862 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Umbilical hernia, Congestive heart failure, Microcephaly, Microphthalmia, Short stature, Edema |
ORPHA:2505 |
| Intellectual Developmental Disorder, Autosomal Dominant 74 |
|
Brachycephaly, Intrauterine growth retardation, Microcephaly |
OMIM:620688 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia, Cystoid macular edema |
OMIM:611040 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation, Short palm |
OMIM:300982 |
| Gomez-Lopez-Hernandez Syndrome |
|
Cerebellar vermis hypoplasia, Skull asymmetry, Fusion of the cerebellar hemispheres, Turricephaly... |
OMIM:601853 |
| Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Chiari type I malformation, Brachycephaly |
OMIM:618859 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Intrauterine growth retardation, Cerebellar hypoplasia, Microphthalmia, Short stature... |
ORPHA:163966 |
| Kleefstra Syndrome 2 |
|
Microcephaly, Plagiocephaly, Growth delay |
OMIM:617768 |
| Neu-Laxova Syndrome 2 |
|
Ventriculomegaly, Toe syndactyly, Finger syndactyly, Intrauterine growth retardation, Cerebellar ... |
OMIM:616038 |
| Baraitser-Winter Syndrome 2 |
|
Short stature, Trigonocephaly, Secondary microcephaly, Microphthalmia |
OMIM:614583 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Postnatal growth retardation, Intrauterine growth retardation, Brachycephaly, Microcephaly |
OMIM:615419 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Short stature, Plagiocephaly, Frontal bossing, Patent ductus arteriosus |
OMIM:618330 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Neonatal death |
OMIM:615524 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Pleural effusion, Cerebell... |
OMIM:616897 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Plagiocephaly, Umbilical hernia, Cerebellar dysplasia, Cerebellar hypoplasia, Microcephaly, Paten... |
ORPHA:500159 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ... |
ORPHA:2633 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Brachycephaly, Frontal bossing |
OMIM:264470 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Short stature, Microcephaly, Brachycephaly |
OMIM:615031 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Short stature, Microcephaly, Pulmonary arterial hypertension, Microphthalmia |
OMIM:300887 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Intrauterine growth retardation, Microphthalmia |
ORPHA:48431 |
| Ochoa Syndrome |
|
Polydipsia |
ORPHA:2704 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Craniosynostosis, Brachycephaly, Occipital encephalocele |
OMIM:614416 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
| Halperin-Birk Syndrome |
|
Ventriculomegaly, Semilobar holoprosencephaly, Umbilical hernia, Intrauterine growth retardation,... |
OMIM:618651 |
| Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Short stature, Microcephaly, Brachycephaly |
OMIM:309541 |
| Craniodigital-Intellectual Disability Syndrome |
|
Spina bifida occulta, Finger syndactyly |
ORPHA:1514 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Sh... |
OMIM:113000 |
| Biemond Syndrome Type 2 |
|
Short stature, Delayed puberty, Microphthalmia |
ORPHA:141333 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Cerebellar hypoplasia, Microcephaly, Brachycephaly |
ORPHA:352530 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 13 |
|
Cerebellar vermis hypoplasia, Plagiocephaly, Microcephaly |
OMIM:614563 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Potocki-Shaffer Syndrome |
|
Brachycephaly, Parietal foramina, Turricephaly |
OMIM:601224 |
| Ritscher-Schinzel Syndrome 1 |
|
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation, Syndactyly |
OMIM:220210 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Cerebellar hypoplasia, Dilated cardiomyopathy, Reduced systolic function, Microphthalmia |
OMIM:618805 |
| Developmental And Epileptic Encephalopathy 65 |
|
Microcephaly, Plagiocephaly, Cerebellar atrophy |
OMIM:618008 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Cerebellar vermis atrophy, Microcephaly, Abnormal pons morphology, Bilateral microphthalmos |
ORPHA:77299 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Short stature, Microphthalmia |
OMIM:610023 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Polyhydramnios, Rhizomelic arm shortening, Abnormally large globe, Posterior plagiocephaly |
ORPHA:96190 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Intrauterine growth retardation, Microphthalmia, Short stature, Frontal bossing |
OMIM:300863 |
| Microphthalmia/Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Prune1-Related Neurological Syndrome |
|
Hypertrophic cardiomyopathy, Microcephaly, Plagiocephaly, Cerebellar atrophy |
ORPHA:544469 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Neuralgic Amyotrophy |
|
Upper limb amyotrophy, Scapular winging, Syndactyly |
ORPHA:2901 |
| Meckel Syndrome, Type 2 |
|
Intrauterine growth retardation, Encephalocele, Microphthalmia, Meningocele, Anencephaly, Dandy-W... |
OMIM:603194 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Plagiocephaly, Intrauterine growth retardation, Microcephaly, Brachycephaly, Frontal bossing |
OMIM:616801 |
| Heart And Brain Malformation Syndrome |
|
Cerebellar vermis hypoplasia, Prominent occiput, Microcephaly, Microphthalmia, Polyhydramnios, Gr... |
OMIM:616920 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Polyhydramnios, Plagiocephaly |
ORPHA:521390 |
| Weaver Syndrome |
|
Joint contracture of the hand, Broad thumb, Clinodactyly, Lateral ventricle dilatation, Hypoplast... |
OMIM:277590 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Lateral ventricle dilatation |
OMIM:615889 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Dehydration |
OMIM:214150 |
| Microphthalmia/Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Recombinant Chromosome 8 Syndrome |
|
Secondary microcephaly, Postnatal growth retardation, Brachycephaly, Growth delay, Patent ductus ... |
OMIM:179613 |
| Baraitser-Winter Syndrome 1 |
|
Aortic valve stenosis, Postnatal growth retardation, Trigonocephaly, Microcephaly, Microphthalmia... |
OMIM:243310 |
| Polyrrhinia |
|
Abnormal third ventricle morphology, Lateral ventricle dilatation |
ORPHA:141091 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia, Pulmonic stenosis, Cranial asymmetry |
ORPHA:137634 |
| Ring Chromosome 10 Syndrome |
|
Intrauterine growth retardation, Frontal bossing, Microphthalmia |
ORPHA:1438 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Short stature, Microcephaly, Brachycephaly |
ORPHA:93950 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Microcephaly, Increased nuchal translucency, Plagiocephaly |
ORPHA:77300 |
| Joubert Syndrome 14 |
|
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Encephalocele, Hypertension, Meningo... |
OMIM:614424 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Intrauterine growth retardation, Microcephaly, Brachycephaly, Spina bifida, Short stature |
ORPHA:1327 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventriculomegaly, Lateral ventricle dilatation, Partial agenesis of the corpus callosum, Intraute... |
ORPHA:79243 |
| Mosaic Trisomy 1 |
|
Cerebellar vermis hypoplasia, Hand clenching, Toe syndactyly, Lateral ventricle dilatation, Broad... |
ORPHA:1692 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Plagiocephaly, Trigonocephaly, Decreased calvarial ossification, Nonimmune hydrops fetalis, Short... |
OMIM:618265 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Chiari malformation, Turricephaly, Brachycephaly, Aplasia/Hypoplasia of the cerebellum, Frontal b... |
ORPHA:93262 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Microcephaly, Microphthalmia, Short stature, Mild short stature, Optic nerve ... |
OMIM:614833 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Plagiocephaly, Bilateral microphthalmos, Umbilical hernia, Brachycephaly, Short stature |
ORPHA:369891 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Ventriculomegaly, Single transverse palmar crease, 2-3 toe syndactyly, Radioulnar synostosis, Bra... |
OMIM:614701 |
| Familial Hyperaldosteronism Type I |
|
Polydipsia |
ORPHA:403 |
| Pfeiffer Syndrome Type 3 |
|
Small hand, Toe syndactyly, Chiari malformation, Finger syndactyly, Broad thumb, Hallux varus, Sh... |
ORPHA:93260 |
| Crouzon Syndrome |
|
Chiari malformation, Multiple suture craniosynostosis, Turricephaly, Cerebellar hypoplasia, Brach... |
ORPHA:207 |
| Hemimegalencephaly |
|
Cranial asymmetry |
ORPHA:99802 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615982 |
| Temtamy Syndrome |
|
Dolichocephaly, Microphthalmia |
ORPHA:1777 |
| Methylcobalamin Deficiency Type Cble |
|
Ventriculomegaly, Clinodactyly, Intrauterine growth retardation, Hydrocephalus, Syndactyly |
ORPHA:2169 |
| Sandestig-Stefanova Syndrome |
|
Trigonocephaly, Intrauterine growth retardation, Primary microcephaly, Microphthalmia |
OMIM:618804 |
| Galloway-Mowat Syndrome 3 |
|
Cerebellar atrophy, Frontal bossing, Intrauterine growth retardation, Oligohydramnios, Microcepha... |
OMIM:617729 |
| Cebalid Syndrome |
|
Plagiocephaly, Platystencephaly, Turricephaly, Brachycephaly, Dolichocephaly |
OMIM:618774 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Brachyturricephaly, Bilateral microphthalmos, Ethmoidal encephalocele, Frontal bossing, Optic ner... |
OMIM:607597 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Intrauterine growth retardation, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Short statu... |
OMIM:617914 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Microcephaly, Intrauterine growth retardation, Growth delay, Microphthalmia |
OMIM:610756 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Microcephaly, Plagiocephaly, Cerebellar atrophy |
OMIM:617481 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Brachycephaly, Intrauterine growth retardation, Microcephaly, Patent ductus arteriosus |
OMIM:618142 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Communicating hydroce... |
OMIM:615219 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Lateral ventricle dilatation, Cerebellar atrophy, Hypoplasia of the pons, Agenesis of corpus call... |
ORPHA:300573 |
| Curry-Jones Syndrome |
|
Ventriculomegaly, Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Agen... |
ORPHA:1553 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Warburg Micro Syndrome 4 |
|
Cerebellar atrophy, Secondary microcephaly, Severe postnatal growth retardation, Brachycephaly, M... |
OMIM:615663 |
| Apert Syndrome |
|
Delayed epiphyseal ossification, Broad distal phalanx of the thumb, Broad thumb, Synostosis of ca... |
OMIM:101200 |
| Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
| Lessel-Kreienkamp Syndrome |
|
Plagiocephaly, Scaphocephaly, Frontal bossing, Patent ductus arteriosus, Pulmonic stenosis |
OMIM:619149 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Synostosis of carpal bones, Postaxial foot polydactyly, Elbow dislocation, Short ... |
ORPHA:1106 |
| Triploidy |
|
Finger syndactyly, Intrauterine growth retardation, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Scaphocephaly, Oligohydramnios, Plagiocephaly |
ORPHA:1143 |
| Familial Exudative Vitreoretinopathy |
|
Macular edema, Lymphedema, Microcephaly, Vitreous hemorrhage, Retinal neovascularization, Macular... |
ORPHA:891 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... |
ORPHA:3329 |
| Distal Deletion 10Q |
|
2-3 toe cutaneous syndactyly, Inferior cerebellar vermis hypoplasia, Clinodactyly, Prominent fing... |
ORPHA:96148 |
| Clark-Baraitser Syndrome |
|
Dolichocephaly, Brachycephaly, Microcephaly |
OMIM:617752 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Cerebellar atrophy, Ascites, Microcephaly, Brachycephaly, Pericardial effusion, Hydrops fetalis, ... |
OMIM:608776 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Umbilical hernia, Frontal bossing, Intrauterine growth retardation, Microcephaly, Brachycephaly, ... |
ORPHA:1292 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Lateral ventricle dilatation, Dilated fourth ventricle, Cerebellar hy... |
ORPHA:3078 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Cerebellar hypoplasia, Microcephaly, Plagiocephaly |
OMIM:618731 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Microcephaly, Flat occiput, Lymphedema |
OMIM:152950 |
| Menkes Disease |
|
Intrauterine growth retardation, Microcephaly, Brachycephaly, Short stature, Intracranial hemorrhage |
OMIM:309400 |
| Rere-Related Neurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Postnatal growth retardation, Intrauterine growth retardation, Micr... |
ORPHA:494344 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Lateral ventricle dilatation, Umbilical hernia, Joint contracture of the 5th finger, ... |
OMIM:618914 |
| Mosaic Trisomy 9 |
|
Intrauterine growth retardation, Oligohydramnios, Prominent occiput, Microcephaly, Spina bifida, ... |
ORPHA:99776 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Small hand, Sandal gap, Lateral ventricle dilatation, Prominent fingertip pads, Intrauterine grow... |
OMIM:612863 |
| Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia |
OMIM:613677 |
| Joubert Syndrome 37 |
|
Short stature, Cerebellar vermis hypoplasia, Frontal bossing, Microphthalmia |
OMIM:619185 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Lateral ventricle dilatation, Single transv... |
OMIM:618606 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Short stature, Frontal bossing, Microphthalmia |
ORPHA:2788 |
| German Syndrome |
|
Short stature, Dolichocephaly, Brachycephaly, Lymphedema |
ORPHA:2077 |
| Moebius Syndrome |
|
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... |
OMIM:157900 |
| Fatco Syndrome |
|
Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology... |
ORPHA:2492 |
| Fetal Alcohol Syndrome |
|
Intrauterine growth retardation, Microcephaly, Microphthalmia, Short stature, Biparietal narrowing |
ORPHA:1915 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Plagiocephaly, Umbilical hernia, Cerebellar hypoplasia, Microcephaly, Brachycephaly, Short stature |
ORPHA:261652 |
| Muenke Syndrome |
|
Coronal craniosynostosis, Plagiocephaly, Brachycephaly, Short stature, Cloverleaf skull |
OMIM:602849 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Bilateral talipes equinovarus, Cerebellar vermis hypoplasia, Intrauterine growth retardation, Lat... |
ORPHA:284417 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Microcephaly, Brachycephaly, Plagiocephaly |
OMIM:618603 |
| Frontofacionasal Dysplasia |
|
Short stature, Brachycephaly, Encephalocele, Microphthalmia |
ORPHA:1791 |
| Adams-Oliver Syndrome |
|
Short distal phalanx of finger, Finger syndactyly, Absent hand, Encephalocele, Abnormal metacarpa... |
ORPHA:974 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Dolichocephaly, Brachycephaly, Plagiocephaly, Prominent occiput |
OMIM:618672 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Clinodactyly, Brachydactyly, Osteolysis involving bones of the upper limbs, Camptodactyly, Osteol... |
ORPHA:88630 |
| Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Anterior basal encephalocele, Microphthalmia |
OMIM:136760 |
| Houge-Janssens Syndrome 3 |
|
Microcephaly, Plagiocephaly, Frontal bossing, Umbilical hernia |
OMIM:618354 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Hemiatrophy, Lateral ventricle dilatation |
ORPHA:306669 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Severe short stature, Microcephaly, Brachycephaly, Flat occiput |
ORPHA:2511 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Talipes equinovarus, Lateral ventricle dilatation |
OMIM:619972 |
| Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures |
|
Plagiocephaly, Frontal bossing |
OMIM:619264 |
| Fetal Trimethadione Syndrome |
|
Brachycephaly, Intrauterine growth retardation, Microcephaly |
ORPHA:1913 |
| Periventricular Nodular Heterotopia 1 |
|
Cerebellar hypoplasia, Syndactyly, Clinodactyly, Short finger |
OMIM:300049 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microcephaly, Microphthalmia |
OMIM:619694 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Cerebellar vermis hypoplasia, Brachycephaly, Microphthalmia |
OMIM:612379 |
| Craniofrontonasal Dysplasia |
|
Plagiocephaly, Microcephaly, Brachycephaly, Craniosynostosis, Frontal bossing |
ORPHA:1520 |
| Hypomelanosis Of Ito |
|
Radial deviation of finger, Hand polydactyly, Clinodactyly, Syndactyly |
OMIM:300337 |
| Cornelia De Lange Syndrome 5 |
|
Short stature, Postnatal growth retardation, Brachycephaly, Microcephaly |
OMIM:300882 |
| Slc35A2-Cdg |
|
Aplasia/hypoplasia involving bones of the extremities, Cerebellar atrophy, Short tibia, Lateral v... |
ORPHA:356961 |
| 19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Intrauterine growth retardation, Mitral regurgitation, Microcephaly, Arrhyt... |
ORPHA:254346 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Plagiocephaly, Microcephaly, Brachycephaly, Short stature, Dolichocephaly, Frontal bossing |
OMIM:619721 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Trigonocephaly, Encephalocele, Microcephaly, Brachycephaly, Dandy-Walker malformation, Microphtha... |
OMIM:619148 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Umbilical hernia, Intrauterine growth retardation, Brachycephaly, Short stature, Frontal bossing |
OMIM:219150 |
| Linear Nevus Sebaceus Syndrome |
|
Plagiocephaly, Frontal bossing, Prominent occiput, Aplasia/Hypoplasia of the cerebellum, Bipariet... |
ORPHA:2612 |
| Autism, Susceptibility To, X-Linked 2 |
|
Plagiocephaly |
OMIM:300495 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Dolichocephaly, Brachycephaly, Plagiocephaly |
OMIM:615433 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Neonatal death, Holoprose... |
OMIM:146510 |
| Cooper-Jabs Syndrome |
|
Short stature, Brachycephaly, Frontal bossing, Umbilical hernia |
ORPHA:1488 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Short stature, Craniosynostosis, Brachycephaly, Frontal bossing |
ORPHA:314575 |
| 6Q25 Microdeletion Syndrome |
|
Short stature, Microcephaly, Plagiocephaly |
ORPHA:251056 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Brachycephaly, Plagiocephaly, Unilambdoid synostosis |
OMIM:618577 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Short stature, Microcephaly, Brachycephaly |
ORPHA:1387 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Trigonocephaly, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Short stature, Dolichocephal... |
OMIM:612530 |
| Microcephaly-Micromelia Syndrome |
|
Intrauterine growth retardation, Oligohydramnios, Neonatal death, Microcephaly, Microphthalmia, C... |
OMIM:251230 |
| Fanconi Anemia, Complementation Group I |
|
Short 1st metacarpal, Chiari malformation, Short thumb, Absent thumb, Intrauterine growth retarda... |
OMIM:609053 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia |
OMIM:304800 |
| Hallermann-Streiff Syndrome |
|
Frontal bossing, Thin calvarium, Scaphocephaly, Proportionate short stature, Telangiectasia, Micr... |
OMIM:234100 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Cerebellar vermis hypoplasia, Small hand, Lateral ventricle dilatation, Genu valgum, Cerebellar h... |
ORPHA:300570 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Brachycephaly, Frontal bossing, Anterior plagiocephaly, Microphthalmia |
ORPHA:163649 |
| 2Q32Q33 Microdeletion Syndrome |
|
Short stature, Microcephaly, Brachycephaly, Growth delay |
ORPHA:251019 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypertrophic cardiomyopathy, Brachycephaly, Congestive heart failure |
ORPHA:70472 |
| Pseudodiastrophic Dysplasia |
|
Severe short stature, Brachycephaly, Rhizomelia, Frontal bossing |
OMIM:264180 |
| East Syndrome |
|
Salt craving, Polydipsia |
ORPHA:199343 |
| Stevenson-Carey Syndrome |
|
Cerebellar hypoplasia, Brachycephaly, Microphthalmia |
OMIM:611961 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Isolated Posterior Meningocele |
|
Chiari malformation, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neu... |
ORPHA:268810 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Short toe, Syndactyly |
OMIM:612581 |
| Familial Hyperaldosteronism Type Iii |
|
Polydipsia |
ORPHA:251274 |
| Even-Plus Syndrome |
|
Severe short stature, Brachycephaly, Oligohydramnios |
OMIM:616854 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Aortic valve stenosis, Cerebellar vermis hypoplasia, Trigonocephaly, Scaphocephaly, Brachycephaly... |
ORPHA:459061 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Marden-Walker Syndrome |
|
Inferior cerebellar vermis hypoplasia, Postnatal growth retardation, Intrauterine growth retardat... |
OMIM:248700 |
| Hoxha-Aliu Syndrome |
|
Short fifth metatarsal, Short distal phalanx of finger, Abnormal epiphysis morphology, Short 4th ... |
OMIM:620662 |
| Hydrolethalus |
|
Polyhydramnios, Anencephaly, Anophthalmia, Microphthalmia |
ORPHA:2189 |
| Frontonasal Dysplasia 3 |
|
Brachycephaly, Microphthalmia |
OMIM:613456 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Abnormal dentate nucleus morphology, Partial agenesis of the corpus callosum, Lateral ventricle d... |
OMIM:619517 |
| Joubert Syndrome 2 |
|
Dysgenesis of the cerebellar vermis, Encephalocele, Elongated superior cerebellar peduncle, Thick... |
OMIM:608091 |
| Chopra-Amiel-Gordon Syndrome |
|
Short stature, Postnatal growth retardation, Brachycephaly, Microcephaly |
OMIM:619504 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Postnatal growth retardation, Intrauterine growth retardation, Microcephaly, Microphthalmia, Hear... |
ORPHA:2728 |
| Williams-Beuren Region Duplication Syndrome |
|
Short stature, Cerebellar vermis hypoplasia, Brachycephaly, Patent ductus arteriosus |
OMIM:609757 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Microcephaly, Brachycephaly, Frontal bossing |
OMIM:617364 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... |
OMIM:274000 |
| Micro Syndrome |
|
Cerebellar vermis hypoplasia, Intrauterine growth retardation, Abnormal cerebellum morphology, Mi... |
ORPHA:2510 |
| Cach Syndrome |
|
Cerebellar atrophy, Lateral ventricle dilatation, Cerebellar vermis atrophy, Intrauterine growth ... |
ORPHA:135 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Cerebellar vermis hypoplasia, Small hand, Shallow acetabular fossae, Cerebellar atrophy, Ulnar de... |
OMIM:611209 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Scaphocephaly, Microcephaly, Cranial asymmetry, Short stature, Growth delay, Patent ductus arteri... |
OMIM:614886 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Deep palmar crease, Brachydactyly, Genu varum, Clinodactyly of the 5th finger, Hip dislocation, S... |
OMIM:619451 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cerebellar dysplasia, Encephalocele, Cerebellar hypoplasia, Microcephaly, Partial absence of cere... |
OMIM:613150 |
| Apert Syndrome |
|
Ventriculomegaly, Broad thumb, Toe syndactyly, Finger syndactyly, Chiari malformation, Micromelia... |
ORPHA:87 |
| Craniosynostosis 2 |
|
Unicoronal synostosis, Trigonocephaly, Bicoronal synostosis, Turricephaly, Brachycephaly, Cranios... |
OMIM:604757 |
| Grant Syndrome |
|
Short stature, Brachycephaly, Frontal bossing |
ORPHA:2097 |
| Cystinosis |
|
Polydipsia, Motor stereotypy |
ORPHA:213 |
| Glutamine Deficiency, Congenital |
|
Lateral ventricle dilatation, Micromelia, Neonatal death, Camptodactyly, Subependymal cysts |
OMIM:610015 |
| Laurence-Moon Syndrome |
|
Short stature, Brachycephaly |
ORPHA:2377 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatarsal, Hitchhik... |
OMIM:605282 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Short stature, Microcephaly, Unilateral microphthalmos, Bilateral microphthalmos |
OMIM:619318 |
| Microphthalmia, Syndromic 8 |
|
Microcephaly, Microphthalmia |
OMIM:601349 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Cerebellar vermis hypoplasia, Oligohydramnios, Increased nuchal translucency, Microphthalmia |
OMIM:618494 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Craniosynostosis, Brachycephaly |
OMIM:612247 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Plagiocephaly, Abnormally large globe, Hypoplasia of the pons, Postnatal growth retardation, Dila... |
OMIM:300749 |
| Trichothiodystrophy 3, Photosensitive |
|
Short stature, Trigonocephaly, Intrauterine growth retardation, Microphthalmia |
OMIM:616395 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Finger aplasia, Absent toe, Clinodactyly of the 2nd finger, Clinodactyly of the 3rd finger, Clino... |
OMIM:620663 |
| Neu-Laxova Syndrome 1 |
|
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Agenesis of corpu... |
OMIM:256520 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Cerebellar hypoplasia, Microcephaly, Progressive microcephaly, Microphtha... |
OMIM:615249 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Lateral ventricle dilata... |
OMIM:210710 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Intrauterine growth retardation, Microcephaly, Brachycephaly, Short stature, Flat occiput |
OMIM:617452 |
| Craniorachischisis |
|
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly |
ORPHA:63260 |
| Laurin-Sandrow Syndrome |
|
Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup... |
OMIM:135750 |
| Trisomy 18 |
|
Growth delay, Chiari malformation, Intrauterine growth retardation, Oligohydramnios, Prominent oc... |
ORPHA:3380 |
| Weiss-Kruszka Syndrome |
|
Ventriculomegaly, Single transverse palmar crease, Agenesis of corpus callosum, Colpocephaly, Cli... |
OMIM:618619 |
| Meckel Syndrome 14 |
|
Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Postaxial polydact... |
OMIM:619879 |
| Pediatric-Onset Graves Disease |
|
Polyphagia, Polydipsia, Hyperactivity |
ORPHA:525731 |
| Summitt Syndrome |
|
Craniosynostosis, Plagiocephaly |
ORPHA:3210 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Plagiocephaly, Intrauterine growth retardation, Prominent occiput, Microcephaly, Polyhydramnios, ... |
OMIM:617360 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Congenital hip dislocation, Umbilical hernia, Cubitus valgus, Hydrocephalus, Syndactyly |
OMIM:104350 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Short stature, Spina bifida occulta, Brachycephaly, Microcephaly |
OMIM:268850 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Intrauterine growth retardation, Agenesis of corpus callosum, Clinodactyly of the 5th toe, Short ... |
OMIM:620113 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Umbilical hernia, Telangiectasia, Brachycephaly, Frontal bossing, Patent ductus arteriosus, Dandy... |
OMIM:612582 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... |
OMIM:246570 |
| Galloway-Mowat Syndrome 4 |
|
Short stature, Plagiocephaly, Primary microcephaly, Cerebellar hypoplasia |
OMIM:617730 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Short stature, Arrhythmia, Microphthalmia |
ORPHA:3191 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Postnatal growth retardation, Microcephaly, Severe intrauterine growth retardation, Microphthalmi... |
OMIM:241410 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Short stature, Microcephaly, Plagiocephaly |
OMIM:618089 |
| Rubinstein-Taybi Syndrome 2 |
|
Broad thumb, Prominent fingertip pads, Short 5th toe, Broad hallux, Short first metatarsal, Synda... |
OMIM:613684 |
| Nephronophthisis 1 |
|
Polydipsia |
OMIM:256100 |
| Coffin-Siris Syndrome 6 |
|
Short stature, Plagiocephaly, Frontal bossing |
OMIM:617808 |
| Temtamy Syndrome |
|
Aortic regurgitation, Frontal bossing, Microphthalmia |
OMIM:218340 |
| Iniencephaly |
|
Rhizomelia, Spinal dysraphism, Rocker bottom foot, Myelomeningocele, Encephalocele, Talipes equin... |
ORPHA:63259 |
| 2Q23.1 Microdeletion Syndrome |
|
Short stature, Microcephaly, Brachycephaly, Growth delay |
ORPHA:228402 |
| Camptobrachydactyly |
|
Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy... |
ORPHA:1319 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Plagiocephaly, Intrauterine growth retardation, Microcephaly, Short stature, Frontal bossing |
ORPHA:371364 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microcephaly, Frontal bossing, Microphthalmia |
OMIM:614105 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Hypoplasia of the pons, Postnatal growth retardation, Intrauterine growth retardation, Microcepha... |
OMIM:612513 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Plagiocephaly, Chiari malformation, Hypoplasia of the pons, Frontal bossing, Patent ductus arteri... |
OMIM:619293 |
| Warburg Micro Syndrome 3 |
|
Secondary microcephaly, Postnatal growth retardation, Microcephaly, Brachycephaly, Microphthalmia |
OMIM:614222 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Abnormality of the hand, Lateral ventricle dilatation |
OMIM:221770 |
| Fg Syndrome Type 1 |
|
Plagiocephaly, Umbilical hernia, Abnormal cerebellum morphology, Prominent occiput, Pulmonary art... |
ORPHA:93932 |
| Al Kaissi Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Microcephaly, Brachycephaly, Short... |
OMIM:617694 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation |
OMIM:616816 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Intrauterine growth retardation, Microcephaly, Brachycephaly, Short stature, Flat occiput |
ORPHA:505237 |
| Glutaric Acidemia I |
|
Lateral ventricle dilatation, Hydrocephalus |
OMIM:231670 |
| Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Microcephaly, Brachycephaly, Progressive microcephaly |
OMIM:620240 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Joubert Syndrome 3 |
|
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Enlarged fossa interpeduncu... |
OMIM:608629 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos, Intrauterine growth retardation, Cerebellar hypoplasia, Microcephaly, S... |
OMIM:610758 |
| Nephrogenic Diabetes Insipidus |
|
Polydipsia, Anorexia |
ORPHA:223 |
| Duane-Radial Ray Syndrome |
|
Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi... |
OMIM:607323 |
| Bardet-Biedl Syndrome 17 |
|
Polydipsia |
OMIM:615994 |
| 2P15P16.1 Microdeletion Syndrome |
|
Aortic regurgitation, Intrauterine growth retardation, Mitral regurgitation, Cerebellar hypoplasi... |
ORPHA:261349 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, Severe short stature, Facial hyperostosis, Thickened calvaria, Brachycepha... |
ORPHA:2780 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Growth delay, Frontal bossing, Ascites, Intrauterine growth retardation, In... |
ORPHA:1052 |
| Ritscher-Schinzel Syndrome 2 |
|
Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ... |
OMIM:300963 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Polyhydramnios, Microcephaly, Brachycephaly, Oligohydramnios |
OMIM:263210 |
| Galloway-Mowat Syndrome 1 |
|
Cerebellar atrophy, Hypoplasia of the iris, Secondary microcephaly, Intrauterine growth retardati... |
OMIM:251300 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Inferior cerebellar vermis hypoplasia, Microphthalmia, Short stature, Dolichocephaly, Frontal bos... |
OMIM:618571 |
| Intellectual Disability-Strabismus Syndrome |
|
Plagiocephaly, Intrauterine growth retardation, Microcephaly, Polyhydramnios, Short stature, Pate... |
ORPHA:363528 |
| Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia |
ORPHA:231580 |
| Xq28 (MECP2) duplication |
|
Microcephaly, Brachycephaly |
DECIPHER:45 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Clinodactyly, Syndactyly |
OMIM:619091 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Plagiocephaly |
ORPHA:94066 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinodactyly of the 5th finger,... |
OMIM:609638 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Rhizomelia, Plagiocephaly |
OMIM:618821 |
| Spondylo-Ocular Syndrome |
|
Short stature, Disproportionate short-trunk short stature, Aplasia/Hypoplasia of the lens, Microp... |
ORPHA:85194 |
| 17Q12 Microduplication Syndrome |
|
Polyhydramnios, Microphthalmia |
ORPHA:261272 |
| Opitz-Kaveggia Syndrome |
|
Joint contracture of the hand, Broad thumb, Clinodactyly, Prominent fingertip pads, Radial deviat... |
OMIM:305450 |
| Fanconi Anemia, Complementation Group R |
|
Chiari type I malformation, Microcephaly, Growth delay, Microphthalmia |
OMIM:617244 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Coronal craniosynostosis, Umbilical hernia, Brachycephaly, Short stature, Patent ductus arteriosus |
ORPHA:2095 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Brachycephaly, Frontal bossing, Mitral regurgitation |
OMIM:615539 |
| Meckel Syndrome, Type 5 |
|
Microphthalmia, Occipital encephalocele, Anencephaly |
OMIM:611561 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Plagiocephaly, Umbilical hernia, Tricuspid regurgitation, Aniridia, Mitral regurgitation, Anophth... |
ORPHA:1101 |
| Martsolf Syndrome 1 |
|
Cardiomyopathy, Congestive heart failure, Microcephaly, Brachycephaly, Microphthalmia, Short stat... |
OMIM:212720 |
| 8Q12 Microduplication Syndrome |
|
Brachycephaly |
ORPHA:228399 |
| Pde4D Haploinsufficiency Syndrome |
|
Hypotension, Postnatal growth retardation, Intrauterine growth retardation, Thickened calvaria, B... |
ORPHA:439822 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Oligohydramnios, Microphthalmia |
OMIM:619053 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Microcephaly, Plagiocephaly, Umbilical hernia |
OMIM:616579 |
| Limb-Mammary Syndrome |
|
Joint contracture of the hand, Hallux valgus, Split hand, Camptodactyly, Split foot, Syndactyly |
OMIM:603543 |
| Malan Overgrowth Syndrome |
|
Scaphocephaly, Plagiocephaly, Frontal bossing, Optic disc hypoplasia |
ORPHA:420179 |
| Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Cerebellar hypoplasia, Microcephaly, Plagiocephaly, Growth delay |
OMIM:619188 |
| Meckel Syndrome, Type 1 |
|
Ventriculomegaly, Postaxial foot polydactyly, Chiari malformation, Occipital encephalocele, Clino... |
OMIM:249000 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Edema, Postnatal growth retardation, Microphthalmia, Polyhydramnios, Frontal bossing,... |
OMIM:302960 |
| Braddock-Carey Syndrome 2 |
|
Microcephaly, Microphthalmia |
OMIM:619981 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Arachnodactyly, Clinodactyly, Syndactyly |
OMIM:619092 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Bilateral microphthalmos, Severe postnatal growth retardation, Microcephaly, Microphthalmia, Doli... |
ORPHA:2399 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Posterior plagiocephaly |
OMIM:619927 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Brachycephaly, Primary microcephaly, Optic nerve hypoplasia |
OMIM:618828 |
| Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... |
ORPHA:137675 |
| Sacral Defect With Anterior Meningocele |
|
Myelomeningocele, Myeloschisis, Hydrocephalus, Bilateral talipes equinovarus, Meningocele, Dermal... |
OMIM:600145 |
| Cerebrooculonasal Syndrome |
|
Cerebellar vermis hypoplasia, Proboscis, Postnatal growth retardation, Encephalocele, Anophthalmi... |
OMIM:605627 |
| Carpenter Syndrome 1 |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Umbilical hernia, Brachycephaly, Sagittal ... |
OMIM:201000 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Ventriculomegaly, Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the hand, Hype... |
OMIM:151050 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Microcephaly, Brachycephaly, Growth delay |
ORPHA:3306 |
| ERI1-related disease |
|
Tricuspid regurgitation, Trigonocephaly, Intrauterine growth retardation, Brachycephaly, Pulmonar... |
OMIM:608739 |
| Chromosome 2Q37 Deletion Syndrome |
|
Short stature, Brachycephaly, Arrhythmia |
OMIM:600430 |
| Warburg Micro Syndrome 2 |
|
Secondary microcephaly, Postnatal growth retardation, Microcephaly, Brachycephaly, Microphthalmia |
OMIM:614225 |
| Desanto-Shinawi Syndrome |
|
Brachycephaly |
OMIM:616708 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Short 5th finger, Ectrodactyly, Small placenta, Intrauterine growth retardation, Polydactyly, Cli... |
ORPHA:397590 |
| Pelvis-Shoulder Dysplasia |
|
Short stature, Spina bifida occulta, Microphthalmia |
OMIM:169550 |
| 3P25.3 Microdeletion Syndrome |
|
Brachycephaly, Patent ductus arteriosus, Pulmonic stenosis, Microphthalmia |
ORPHA:435638 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Cerebellar hypoplasia, Cerebellar vermis atrophy, Clinodactyly, Syndactyly |
OMIM:618087 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Dolichocephaly, Microphthalmia |
OMIM:167730 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Polyhydramnios, Microcephaly, Brachycephaly, Short stature |
OMIM:301041 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Dilated third ventricle, Lateral ventricle dilatation |
OMIM:620315 |
| Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops fetalis, Arrhythm... |
OMIM:153400 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Brachycephaly |
OMIM:615761 |
| Apparent Mineralocorticoid Excess |
|
Polydipsia |
ORPHA:320 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Cerebellar vermis atrophy, Microcephaly, Brachycephaly, Microphthalmia, Dandy-Walker malformation |
OMIM:156610 |
| Fanconi Anemia, Complementation Group F |
|
Intrauterine growth retardation, Microcephaly, Microphthalmia, Polyhydramnios, Short stature, Pat... |
OMIM:603467 |
| Poland Syndrome |
|
Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Syndactyly |
OMIM:173800 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Plagiocephaly, Umbilical hernia, Oligohydramnios, Turricephaly, Microcephaly, Brachycephaly, Spin... |
OMIM:613776 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Microcephaly, Brachycephaly |
OMIM:300958 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Ritscher-Schinzel Syndrome 4 |
|
Plagiocephaly, Cerebellar hypoplasia, Brachycephaly, Short stature, Dandy-Walker malformation |
OMIM:619435 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Lambdoidal craniosynostosis, Restrictive cardiomyopathy, Cerebellar atrophy, Cerebellar hypoplasi... |
OMIM:615398 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Brachycephaly, Plagiocephaly, Frontal bossing |
OMIM:616789 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Polydipsia |
ORPHA:369929 |
| Nephronophthisis 11 |
|
Polydipsia |
OMIM:613550 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Umbilical hernia, Aplasia of... |
OMIM:308050 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Tarsal sclerosis, Abnormal pelvis bone ossification, Abnormal... |
ORPHA:166119 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Plagiocephaly, Microcephaly, Brachycephaly, Short stature, Craniosynostosis |
ORPHA:2163 |
| Alagille Syndrome |
|
Frontal bossing, Intrauterine growth retardation, Brachycephaly, Telangiectasia of the skin, Dela... |
ORPHA:52 |
| 20Q11.2 Microduplication Syndrome |
|
Trigonocephaly, Microcephaly, Brachycephaly, Severe intrauterine growth retardation, Periorbital ... |
ORPHA:363659 |
| Bartsocas-Papas Syndrome 2 |
|
Prominent occiput, Microphthalmia |
OMIM:619339 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Shortening of all distal phalanges of the fingers, Lateral ventricle dilatation |
OMIM:615716 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microcephaly, Inferior cerebellar vermis hypoplasia, Anophthalmia, Microphthalmia |
ORPHA:139471 |
| Orofaciodigital Syndrome I |
|
Clinodactyly, Radial deviation of finger, Myelomeningocele, Polydactyly, Agenesis of corpus callo... |
OMIM:311200 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Cerebellar vermis hypoplasia, Plagiocephaly, Chiari type I malformation, Microcephaly, Frontal bo... |
OMIM:619720 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Syndactyly |
OMIM:613576 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Postnatal growth retardation, Intrauterine growth retardation, Oligohydramnios, Cerebellar hypopl... |
OMIM:257300 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Plagiocephaly |
OMIM:615516 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
Brachycephaly, Frontal bossing |
OMIM:615828 |
| Acromelic Frontonasal Dysostosis |
|
Ventriculomegaly, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot poly... |
OMIM:603671 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Encephalocele, Cerebellar hypoplasia, Microphthalmia, Cerebellar cyst, Pu... |
OMIM:253800 |
| Microphthalmia With Limb Anomalies |
|
Frontal bossing, Postnatal growth retardation, Anophthalmia, Microphthalmia, Growth delay |
OMIM:206920 |
| Bardet-Biedl Syndrome 8 |
|
Brachycephaly |
OMIM:615985 |
| X-Linked Intellectual Disability, Wilson Type |
|
Microcephaly, Brachycephaly, Growth delay |
ORPHA:85290 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Hypertrophic cardiomyopathy, Cerebellar vermis hypoplasia, Plagiocephaly, Flat occiput |
OMIM:619383 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Cerebellar hypoplasia, Microphthalmia, Frontal bossing, Dandy-Walker malformation,... |
OMIM:614643 |
| Fanconi Anemia, Complementation Group S |
|
Short stature, Microcephaly, Microphthalmia |
OMIM:617883 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Short stature, Brachycephaly, Rieger anomaly |
OMIM:109120 |
| Walker-Warburg Syndrome |
|
Anophthalmia, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Abnormal cerebellar vermis mor... |
ORPHA:899 |
| Brain-Lung-Thyroid Syndrome |
|
Compulsive behaviors, Abnormal drinking behavior, Abnormal eating behavior, Hyperactivity |
ORPHA:209905 |
| Noonan Syndrome 13 |
|
Microcephaly, Plagiocephaly, Mitral regurgitation, Lymphedema |
OMIM:619087 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Plagiocephaly, Microcephaly, Short stature, Craniosynostosis, Growth delay, Patent ductus arteriosus |
ORPHA:457193 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Cerebellar vermis hypoplasia, Hand clenching, Clubbing of toes, Elbow dislocation, Arachnodactyly... |
OMIM:620083 |
| Chromosome 5P13 Duplication Syndrome |
|
Craniosynostosis, Brachycephaly, Frontal bossing, Turricephaly |
OMIM:613174 |
| Senior-Loken Syndrome 1 |
|
Polydipsia |
OMIM:266900 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Unicoronal synostosis, Encephalocele, Cerebellar hypoplasia, Stillbirth, Microphthalm... |
OMIM:616300 |
| Garg-Mishra Progeroid Syndrome |
|
Short stature, Postnatal growth retardation, Secondary microcephaly, Microphthalmia |
OMIM:620601 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Deviation of the 2nd finger, Dilated third ventricle, Finger syndactyly, Clinodactyly, Lateral ve... |
ORPHA:464738 |
| Cog5-Cdg |
|
Joint contracture of the hand, Cerebellar atrophy, Lateral ventricle dilatation, Finger clinodact... |
ORPHA:263487 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Lateral ventricle dilatation, Intrauterine growth retardation, Abnormal cerebellum morphology, Ce... |
ORPHA:565624 |
| Hartsfield Syndrome |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Ectrodactyly, Agenesis of corpus callosum,... |
OMIM:615465 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina... |
OMIM:605432 |
| Osteogenesis Imperfecta, Type Xx |
|
Plagiocephaly, Disproportionate short-limb short stature, Intrauterine growth retardation, Microc... |
OMIM:618644 |
| Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
| Femoral-Facial Syndrome |
|
Short fifth metatarsal, Ventriculomegaly, Toe syndactyly, Hypoplastic acetabulae, Preaxial hand p... |
OMIM:134780 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Talipes equinovarus, Abnormal cerebellum morphology, Lateral ventricle dilatation |
OMIM:256850 |
| Fraser Syndrome 3 |
|
Short toe, Cutaneous syndactyly, Hydrocephalus, Stillbirth |
OMIM:617667 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Brachycephaly, Plagiocephaly, Frontal bossing |
OMIM:618430 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Whipple Disease |
|
Polydipsia, Anorexia |
ORPHA:3452 |
| Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
| Congenital Fibrinogen Deficiency |
|
Tachycardia, Internal hemorrhage, Microphthalmia |
ORPHA:335 |
| 1Q21.1 Microdeletion Syndrome |
|
Intrauterine growth retardation, Microcephaly, Microphthalmia, Short stature, Frontal bossing, Pa... |
ORPHA:250989 |
| Noonan Syndrome With Multiple Lentigines |
|
Hypertrophic cardiomyopathy, Bundle branch block, Intrauterine growth retardation, Arrhythmia, Br... |
ORPHA:500 |
| Bohring-Opitz Syndrome |
|
Short toe, Overlapping toe, Intrauterine growth retardation, Mesomelic/rhizomelic limb shortening... |
OMIM:605039 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Brachycephaly, Microphthalmia |
ORPHA:404440 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Cerebellar malformation, Cerebellar dysplasia, Cerebellar hypoplasia, Mi... |
OMIM:236670 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly |
OMIM:615284 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Short stature, Cerebellar vermis hypoplasia, Brachycephaly, Retrocerebellar cyst |
ORPHA:364028 |
| Joubert Syndrome 1 |
|
Cerebellar vermis hypoplasia, Plagiocephaly, Dysgenesis of the cerebellar vermis, Occipital myelo... |
OMIM:213300 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Short stature, Frontal bossing, Microphthalmia |
OMIM:617306 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Polydipsia |
OMIM:617994 |
| Adenylosuccinase Deficiency |
|
Microcephaly, Brachycephaly, Growth delay, Cerebellar atrophy |
OMIM:103050 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Toe syndactyly, Syndactyly |
OMIM:601163 |
| De Barsy Syndrome |
|
Cerebellar vermis hypoplasia, Umbilical hernia, Postnatal growth retardation, Intrauterine growth... |
ORPHA:2962 |
| Septo-Optic Dysplasia Spectrum |
|
Polydipsia |
ORPHA:3157 |
| Smith-Lemli-Opitz Syndrome |
|
Postaxial foot polydactyly, Overlapping toe, Holoprosencephaly, Hip dislocation, Short toe, Chiar... |
OMIM:270400 |
| Grange Syndrome |
|
Short palm, Syndactyly |
ORPHA:79094 |
| Smith-Magenis Syndrome |
|
Short stature, Brachycephaly |
OMIM:182290 |
| Hypomandibular Faciocranial Dysostosis |
|
Trigonocephaly, Brachycephaly, Polyhydramnios, Craniosynostosis, Patent ductus arteriosus |
ORPHA:1790 |
| Fontaine Progeroid Syndrome |
|
Cerebellar vermis hypoplasia, Coronal craniosynostosis, Umbilical hernia, Tricuspid regurgitation... |
OMIM:612289 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing of the long... |
OMIM:614091 |
| Silver-Russell Syndrome 1 |
|
Intrauterine growth retardation, Clinodactyly of the 5th finger, Short distal phalanx of the 5th ... |
OMIM:180860 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Chiari malformation, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephaly, Holop... |
OMIM:618820 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Polyhydramnios, Brachycephaly, Short stature, Neonatal death |
OMIM:619859 |
| Myoclonic-Astatic Epilepsy |
|
Microcephaly, Microphthalmia |
ORPHA:1942 |
| 3Q29 Microduplication Syndrome |
|
Aniridia, Microcephaly, Microphthalmia, Craniosynostosis, Biparietal narrowing |
ORPHA:251038 |
| Weill-Marchesani Syndrome 1 |
|
Aortic valve stenosis, Microspherophakia, Mitral regurgitation, Proportionate short stature, Brac... |
OMIM:277600 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Growth delay, Patent ductus arteriosus, Anophthalmia, Microphthalmia |
ORPHA:77298 |
| Gracile Bone Dysplasia |
|
Ascites, Aniridia, Short stature, Microphthalmia |
OMIM:602361 |
| Lig4 Syndrome |
|
Microcephaly, Brachycephaly, Telangiectasia of the skin, Biparietal narrowing, Growth delay |
ORPHA:99812 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Intrauterine growth retardation, Scaphocephaly, Portal hypertension, Severe postnatal growth reta... |
OMIM:620005 |
| Kury-Isidor Syndrome |
|
Brachycephaly, Growth delay, Frontal bossing |
OMIM:619762 |
| 19P13.13 Microdeletion Syndrome |
|
Increased nuchal translucency, Chiari type I malformation, Brachycephaly, Dolichocephaly, Optic n... |
ORPHA:357001 |
| Cenani-Lenz Syndactyly Syndrome |
|
Broad hallux, Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Metacarpal... |
OMIM:212780 |
| Contractural Arachnodactyly, Congenital |
|
Scaphocephaly, Mitral regurgitation, Brachycephaly, Dolichocephaly, Frontal bossing, Patent ductu... |
OMIM:121050 |
| Camptobrachydactyly |
|
Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly |
OMIM:114150 |
| Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Dilated third ventricle, Chiari malformation, Lateral ventricle dil... |
OMIM:304050 |
| Acromelic Frontonasal Dysplasia |
|
Brachycephaly, Meningocele, Retrocerebellar cyst, Encephalocele |
ORPHA:1827 |
| Cerebrooculonasal Syndrome |
|
Brachycephaly, Anophthalmia |
ORPHA:66625 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Umbilical hernia, Encephalocele, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Polyhydramnios |
ORPHA:2166 |
| Solitary Median Maxillary Central Incisor |
|
Short stature, Microcephaly, Anophthalmia, Microphthalmia |
OMIM:147250 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Cerebellar atrophy, Microphthalmia |
OMIM:301108 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Plagiocephaly, Cerebellar atrophy, Hypertrophic cardiomyopathy, Microcephaly, Arrhythmia, Growth ... |
OMIM:615471 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Polyhydramnios, Brachycephaly, Plagiocephaly, Frontal bossing |
OMIM:617296 |
| Vacterl With Hydrocephalus |
|
Intrauterine growth retardation, Anophthalmia, Spina bifida, Microphthalmia, Polyhydramnios |
ORPHA:3412 |
| Atelis Syndrome 2 |
|
Microcephaly, Vitreous hemorrhage, Microphthalmia, Supravalvar pulmonary stenosis, Frontal bossin... |
OMIM:620185 |
| Smith-Magenis Syndrome |
|
Microcephaly, Brachycephaly, Delayed puberty, Short stature, Frontal bossing |
ORPHA:819 |
| Microphthalmia, Isolated 8 |
|
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:615113 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Short stature, Brachycephaly |
ORPHA:1173 |
| Papillorenal Syndrome |
|
Chiari type I malformation, Microphthalmia, Short stature, Hypertension, Edema |
OMIM:120330 |
| Houge-Janssens Syndrome 2 |
|
Microcephaly, Plagiocephaly |
OMIM:616362 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Secondary microcephaly, Cerebellar vermis hypoplasia, Brachycephaly |
OMIM:620073 |
| Aarskog-Scott Syndrome |
|
Short 5th finger, Clinodactyly, Radial deviation of finger, Single transverse palmar crease, Synd... |
OMIM:305400 |
| Weill-Marchesani Syndrome 2 |
|
Aortic valve stenosis, Microspherophakia, Umbilical hernia, Congestive heart failure, Mitral regu... |
OMIM:608328 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Polydipsia |
OMIM:612780 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microcephaly, Intrauterine growth retardation, Microphthalmia |
ORPHA:1352 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Plagiocephaly, Growth delay, Cerebellar atrophy, Secondary microcephaly, Microcephaly, Frontal bo... |
OMIM:617193 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Clinodactyly, Agenesis of corpus callosum, Cerebellar hypoplasia, Brachydactyly, Proximal placeme... |
OMIM:217980 |
| Distal Deletion 3P |
|
Umbilical hernia, Intrauterine growth retardation, Microcephaly, Brachycephaly, Short stature |
ORPHA:1620 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Plagiocephaly, Oligohydramnios, Telangiectasia, Brachycephaly, Growth delay, Abnormal parietal bo... |
ORPHA:247262 |
| Larsen-Like Syndrome |
|
Short stature, Brachycephaly, Frontal bossing |
OMIM:608545 |
| Acrofrontofacionasal Dysostosis 2 |
|
Short stature, Microcephaly, Brachycephaly |
OMIM:239710 |
| Developmental And Epileptic Encephalopathy 110 |
|
Microcephaly, Posterior plagiocephaly |
OMIM:620149 |
| Renal Hypoplasia |
|
Polydipsia |
ORPHA:93101 |
| Trisomy 20P |
|
Plagiocephaly, Umbilical hernia, Brachycephaly, Spina bifida, Dolichocephaly, Frontal bossing |
ORPHA:261318 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Micromelia, Postaxial polydactyly, Brachydactyly, Hypoplasia of the radius, Syn... |
OMIM:617895 |
| Pierson Syndrome |
|
Hypoplasia of the iris, Oligohydramnios, Rieger anomaly, Hypoplasia of the ciliary body, Macular ... |
OMIM:609049 |
| Schizophrenia 1 |
|
Short proximal phalanx of the 4th toe, Syndactyly |
OMIM:181510 |
| White-Sutton Syndrome |
|
Intrauterine growth retardation, Microcephaly, Brachycephaly, Short stature, Patent ductus arteri... |
OMIM:616364 |
| Muenke Syndrome |
|
Coronal craniosynostosis, Brachycephaly, Plagiocephaly |
ORPHA:53271 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos, Frontal bossing |
OMIM:615085 |
| Autosomal Dominant Keratitis |
|
Bilateral microphthalmos, Aniridia, Corneal neovascularization, Hypoplasia of the fovea, Macular ... |
ORPHA:2334 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Brachycephaly |
OMIM:218000 |
| Spondyloenchondrodysplasia |
|
Hypoplastic ilia, Short distal phalanx of finger, Ventriculomegaly, Abnormal lateral ventricle mo... |
ORPHA:1855 |
| Hallermann-Streiff Syndrome |
|
Congestive heart failure, Proportionate short stature, Cerebellar hypoplasia, Microcephaly, Brach... |
ORPHA:2108 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Tapered toe, Dilated third ventricle, Lateral ventricle dilatation, Clinodactyly of the 5th finge... |
ORPHA:544488 |
| 7Q31 Microdeletion Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Plagiocephaly, Patent ductus arter... |
ORPHA:251061 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Cerebellar vermis hypoplasia, Secondary microcephaly, Postnatal growth retardation, Microcephaly,... |
OMIM:156200 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Epistaxis, Plagiocephaly, Cerebellar vermis atrophy, Telangiectasia, Microcephaly, Brachycephaly,... |
ORPHA:495818 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microcephaly, Frontal bossing, Microphthalmia |
OMIM:620098 |
| Helix Syndrome |
|
Polydipsia |
OMIM:617671 |
| Holoprosencephaly |
|
Spinal dysraphism, Branchial anomaly, Encephalocele, Anophthalmia, Microcephaly, Arrhythmia, Apla... |
ORPHA:2162 |
| Monosomy 9Q22.3 |
|
Microphthalmia, Trigonocephaly, Chiari malformation, Umbilical hernia |
ORPHA:77301 |
| Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal neovascularization, Microphthalmia |
OMIM:193220 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Femur fracture, Lateral ventricle dilatation, Hydrocephalus |
OMIM:612301 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanx of the hallux, Agenesis of corpus callosum, Aplasia of the distal p... |
ORPHA:3472 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Plagiocephaly, Intrauterine growth retardation, Increased nuchal translucency, Branchial anomaly,... |
ORPHA:453499 |
| Polysyndactyly With Cardiac Malformation |
|
Duplication of phalanx of hallux, Syndactyly, Stillbirth, Preaxial hand polydactyly |
OMIM:263630 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Microcephaly, Brachycephaly, Growth delay |
OMIM:300260 |
| Kapur-Toriello Syndrome |
|
Intrauterine growth retardation, Patent ductus arteriosus, Microphthalmia |
OMIM:244300 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Short stature, Brachycephaly, Frontal bossing, Microphthalmia |
OMIM:257850 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Plagiocephaly, Cerebellar atrophy, Secondary microcephaly, Primary microcephaly, Polyhydramnios, ... |
ORPHA:496641 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Talipes equinovarus, Colp... |
OMIM:620371 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Plagiocephaly, Turricephaly, Microcephaly, Intraventricular hemorrhage, Polyhydramnios, Frontal b... |
OMIM:613603 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Postnatal growth retardation, Anophthalmia, Microcephaly, Microphthalmia, Sh... |
OMIM:206900 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Plagiocephaly, Anterior plagiocephaly, Microcephaly, Left unicoronal synostosis, Growth delay |
OMIM:614749 |
| Hyperparathyroidism, Transient Neonatal |
|
Umbilical hernia, Brachycephaly, Polyhydramnios, Frontal bossing, Patent ductus arteriosus |
OMIM:618188 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Short stature, Severe postnatal growth retardation, Frontal bossing, Microphthalmia |
ORPHA:35173 |
| Constricting Bands, Congenital |
|
Talipes equinovarus, Hand polydactyly, Encephalocele, Syndactyly |
OMIM:217100 |
| Cerebrofacioarticular Syndrome |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Caudal appendage, Agenesis of corpus callosum, Dy... |
ORPHA:314679 |
| Pseudotrisomy 13 Syndrome |
|
Cerebellar hypoplasia, Microcephaly, Encephalocele, Microphthalmia |
OMIM:264480 |
| Incontinentia Pigmenti |
|
Congestive heart failure, Umbilical hernia, Cerebral ischemia, Telangiectasia of the skin, Pulmon... |
ORPHA:464 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Chiari type I malformation, Lateral ventricle dilatation, Dilated third ventricle, Hydrocephalus |
OMIM:619575 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic valve stenosis, Aortic regurgitation, Microcephaly, Brachycephaly, Growth delay, Flat occiput |
ORPHA:96147 |
| Matthew-Wood Syndrome |
|
Intrauterine growth retardation, Anophthalmia, Microphthalmia |
ORPHA:2470 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris |
OMIM:604229 |
| 9P13 Microdeletion Syndrome |
|
Short stature, Brachycephaly, Umbilical hernia |
ORPHA:324313 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Ventriculomegaly, Cerebellar atrophy, Hypoplasia of the pons, Syndactyly |
OMIM:616430 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Microcephaly, Brachycephaly, Growth delay, Flat occiput |
ORPHA:2707 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
| Momo Syndrome |
|
Short stature, Brachycephaly, Frontal bossing, Bilateral microphthalmos |
ORPHA:2563 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
| Refsum Disease |
|
Microphthalmia, Cardiomyopathy, Heart block |
ORPHA:773 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Cerebellar cyst, Buphthalmos, Microphthalmia |
OMIM:616538 |
| Sweeney-Cox Syndrome |
|
Cerebellar hypoplasia, Brachycephaly, Polyhydramnios, Patent ductus arteriosus, Flat occiput |
OMIM:617746 |
| Senior-Boichis Syndrome |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Polydipsia, Agitation |
ORPHA:84081 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Short stature, Spina bifida occulta, Plagiocephaly, Microcephaly |
OMIM:619227 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Intrauterine growth retardation, Epiphyseal stippl... |
OMIM:614866 |
| Joubert Syndrome 33 |
|
Syndactyly |
OMIM:617767 |
| Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Postnatal growth retardation, Cerebellar vermis hypoplasia |
OMIM:619135 |
| Monosomy 13Q14 |
|
Finger syndactyly, Intrauterine growth retardation, Aplasia/Hypoplasia of the thumb, Brachydactyl... |
ORPHA:1587 |
| Holoprosencephaly 7 |
|
Bilateral microphthalmos, Occipital meningocele, Microcephaly, Parietal bossing, Cranial asymmetr... |
OMIM:610828 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Plagiocephaly, Secondary microcephaly, Brachycephaly, Primary microcephaly, Short stature, Fronta... |
OMIM:610759 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly, Talipes equinovarus, Cerebellar dysplasia, Poorly formed metencephalon |
OMIM:601374 |
| Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Stillbirth, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Op... |
OMIM:243605 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Microphthalmia, Syndromic 9 |
|
Severe short stature, Bilateral microphthalmos, Intrauterine growth retardation, Anophthalmia, Ne... |
OMIM:601186 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Short stature, Microcephaly, Cerebellar atrophy, Microphthalmia |
OMIM:610651 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Camptodactyly, Syndactyly |
OMIM:616006 |
| Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Scaphocephaly, Turricephaly, Microcephaly, Microphthalmia, Short stature |
OMIM:272950 |
| Aprosencephaly Syndrome |
|
Finger aplasia, Aprosencephaly, Anencephaly |
OMIM:207770 |
| Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Syndactyly |
OMIM:619736 |
| Poland Syndrome |
|
Small hand, Aplasia/Hypoplasia of the radius, Cone-shaped epiphysis, Finger syndactyly, Absent ha... |
ORPHA:2911 |
| Lujan-Fryns Syndrome |
|
Brachycephaly |
ORPHA:776 |
| Dihydropyrimidinase Deficiency |
|
Microcephaly, Plagiocephaly, Growth delay |
OMIM:222748 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Broad toe, Dis... |
OMIM:268310 |
| Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Short stature, Microcephaly, Brachycephaly |
ORPHA:562528 |
| Cerebrofaciothoracic Dysplasia |
|
Polyhydramnios, Cerebellar vermis hypoplasia, Brachycephaly, Short stature |
ORPHA:1394 |
| Pseudo-Torch Syndrome 2 |
|
Cerebellar hypoplasia, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:617397 |
| Hyperparathyroidism, Neonatal Severe |
|
Polydipsia |
OMIM:239200 |
| Premature Aging Syndrome, Penttinen Type |
|
Frontal bossing, Thin calvarium, Corneal stromal edema, Microphthalmia, Retrocerebellar cyst |
OMIM:601812 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Brachycephaly, Plagiocephaly |
OMIM:619910 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Intrauterine growth retardation, Microcepha... |
OMIM:616975 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Microphthalmia |
OMIM:601794 |
| Aica-Ribosiduria |
|
Brachycephaly |
ORPHA:250977 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
| Crouzon Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachycephaly, Sagittal craniosynostosis, ... |
OMIM:123500 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar atrophy, Lateral ventricle dilatation,... |
ORPHA:572798 |
| Rodrigues Blindness |
|
Short stature, Microphthalmia |
OMIM:268320 |
| Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Cerebellar atrophy, Chiari malformation, Cranial hyperostosis, Umbilical he... |
ORPHA:309282 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Microcephaly, Growth delay, Microphthalmia |
OMIM:234050 |
| Adams-Oliver Syndrome 6 |
|
Foot oligodactyly, Brachydactyly, Syndactyly |
OMIM:616589 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcephaly, Pulmonary arterial hypertension, Microphthalmia |
OMIM:616449 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Secondary microcephaly, Intrauterine growth retardation, Oligohydramnios, Microcephaly, Brachycep... |
OMIM:619229 |
| Cat Eye Syndrome |
|
Umbilical hernia, Microphthalmia, Short stature, Patent ductus arteriosus, Pulmonic stenosis |
OMIM:115470 |
| Fanconi Anemia |
|
Umbilical hernia, Hypertrophic cardiomyopathy, Frontal bossing, Intrauterine growth retardation, ... |
ORPHA:84 |
| Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Short stature, Microcephaly, Brachycephaly |
OMIM:618885 |
| Myhre Syndrome |
|
Aortic valve stenosis, Intrauterine growth retardation, Pericardial effusion, Thickened calvaria,... |
OMIM:139210 |
| Holoprosencephaly 13, X-Linked |
|
Colpocephaly, Alobar holoprosencephaly, Agenesis of corpus callosum, Semilobar holoprosencephaly |
OMIM:301043 |
| Aymé-Gripp Syndrome |
|
Plagiocephaly, Postnatal growth retardation, Chiari type I malformation, Brachycephaly, Pericardi... |
ORPHA:1272 |
| Holt-Oram Syndrome |
|
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Ulnar deviation of thumb, ... |
OMIM:142900 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microcephaly, Intrauterine growth retardation, Oligohydramnios, Microphthalmia |
ORPHA:364577 |
| Cockayne Syndrome B |
|
Severe short stature, Hypoplasia of the iris, Postnatal growth retardation, Intrauterine growth r... |
OMIM:133540 |
| 3Q29 Microdeletion Syndrome |
|
Microcephaly, Pulmonary arterial hypertension, Patent ductus arteriosus, Microphthalmia |
ORPHA:65286 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Short stature, Microcephaly, Plagiocephaly |
OMIM:618106 |
| Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Brachycephaly |
OMIM:616083 |
| Gitelman Syndrome |
|
Salt craving, Polydipsia |
OMIM:263800 |
| Frontorhiny |
|
Basal encephalocele, Cranium bifidum occultum, Encephalocele, Microphthalmia |
ORPHA:391474 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Severe short stature, Cerebellar atrophy, Hypoplasia of the pons, Bilateral microphthalmos, Intra... |
ORPHA:468631 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Secondary microcephaly, Mild postnatal growth retardation, Brachycephaly, Cerebellar hemisphere h... |
ORPHA:456312 |
| Jacobsen Syndrome |
|
Trigonocephaly, Intrauterine growth retardation, Macular hypoplasia, Microcephaly, Microphthalmia... |
OMIM:147791 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Colpocephaly, Hydrocephalus, Single transverse palmar crease, Agenesis of corpus callosum |
OMIM:309801 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Postnatal growth retardation, Cerebellar hypoplasia, Microcephaly, Brachycephaly, Short stature |
OMIM:212066 |
| Cohen Syndrome |
|
Intrauterine growth retardation, Microcephaly, Delayed puberty, Microphthalmia, Short stature |
ORPHA:193 |
| Panhypophysitis |
|
Polydipsia |
ORPHA:95513 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microcephaly, Brachycephaly, Frontal bossing, Microphthalmia |
ORPHA:1236 |
| Robinow-Sorauf Syndrome |
|
Craniosynostosis, Plagiocephaly, Pansynostosis |
OMIM:180750 |
| Baller-Gerold Syndrome |
|
Brachyturricephaly, Frontal bossing, Intrauterine growth retardation, Brachycephaly, Short statur... |
ORPHA:1225 |
| Oculopalatocerebral Syndrome |
|
Short stature, Microcephaly, Microphthalmia |
OMIM:257910 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Polyhydramnios, Dolichocephaly, Plagiocephaly, Severe short stature |
ORPHA:2215 |
| 22Q11.2 Deletion Syndrome |
|
Hypertensive crisis, Gastrointestinal hemorrhage, Multiple suture craniosynostosis, Umbilical her... |
ORPHA:567 |
| Roberts Syndrome |
|
Postnatal growth retardation, Microphthalmia, Microcephaly, Brachycephaly, Severe intrauterine gr... |
ORPHA:3103 |
| Cdags Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Parietal foramina, Brachycephaly, Sagittal... |
OMIM:603116 |
| Antley-Bixler Syndrome |
|
Craniosynostosis, Brachycephaly, Frontal bossing, Turricephaly |
ORPHA:83 |
| Alg12-Cdg |
|
Posterior plagiocephaly, Intrauterine growth retardation, Cerebellar hypoplasia, Progressive micr... |
ORPHA:79324 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation, Brachydactyly |
OMIM:619995 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Ventriculomegaly, Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, Trident pelv... |
OMIM:619479 |
| Developmental And Epileptic Encephalopathy 31B |
|
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum |
OMIM:620352 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal neovascularization, Microphthalmia |
OMIM:305390 |
| Cousin Syndrome |
|
Hydranencephaly, Disproportionate short stature, Rhizomelia, Microphthalmia, Frontal bossing |
OMIM:260660 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Brachycephaly, Frontal bossing |
OMIM:608688 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Microphthalmia, Ven... |
OMIM:300952 |
| Focal Dermal Hypoplasia |
|
Umbilical hernia, Hypoplasia of the iris, Telangiectasia of the skin, Spina bifida, Microphthalmi... |
ORPHA:2092 |
| Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Finger clinodactyly, Preaxial polydactyly, Hand polydactyly, Mesoax... |
ORPHA:2754 |
| Phace Association |
|
Cerebellar hypoplasia, Microphthalmia, Patent ductus arteriosus, Dandy-Walker malformation, Optic... |
OMIM:606519 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| 16Q24.3 Microdeletion Syndrome |
|
Ventriculomegaly, Colpocephaly, Proximal placement of thumb, Hip dysplasia |
ORPHA:261250 |
| Developmental And Epileptic Encephalopathy 84 |
|
Microcephaly, Plagiocephaly |
OMIM:618792 |
| Trichothiodystrophy 1, Photosensitive |
|
Telangiectasia, Microcephaly, Short stature, Microphthalmia |
OMIM:601675 |
| Cri-Du-Chat Syndrome |
|
Single transverse palmar crease, Metatarsus adductus, Short metatarsal, Short metacarpal, High ax... |
OMIM:123450 |
| Acrofrontofacionasal Dysostosis |
|
Short stature, Brachycephaly |
ORPHA:1784 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Polysyndactyly of hallux, Lateral ventricle dilatation, Postaxial p... |
OMIM:263520 |
| Encephalocraniocutaneous Lipomatosis |
|
Cerebellar hypoplasia, Hypoplasia of the iris, Dandy-Walker malformation, Microphthalmia |
OMIM:613001 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly |
OMIM:226700 |
| Oculofaciocardiodental Syndrome |
|
Patent ductus arteriosus, Microphthalmia |
ORPHA:2712 |
| Oculo-Palato-Cerebral Syndrome |
|
Short stature, Microcephaly, Intrauterine growth retardation, Microphthalmia |
ORPHA:2714 |
| Khan-Khan-Katsanis Syndrome |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Clinodactyly, Intrauterine growth retardation, Po... |
OMIM:618460 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Plagiocephaly, Intrauterine growth retardation, Decreased heart rate variability, Dolichocephaly,... |
OMIM:619005 |
| Microphthalmia, Syndromic 5 |
|
Short stature, Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:610125 |
| Oligomeganephronia |
|
Polydipsia |
ORPHA:2260 |
| Achard Syndrome |
|
Brachycephaly, Broad skull |
OMIM:100700 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Cerebellar hypoplasia, Brachycephaly, Short stature, Patent ductus arteriosus, Dandy-Walker malfo... |
OMIM:300968 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Sandal gap, Micromelia, Broad hallux, Single transverse palmar crease, Brachydactyly, Syndactyly |
OMIM:614800 |
| Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Calvarial skull defect, Encephalocele, Microcephaly, Pulmonary arterial hy... |
OMIM:100300 |
| Trichothiodystrophy |
|
Diffuse cerebellar atrophy, Cardiomyopathy, Umbilical hernia, Bilateral microphthalmos, Intrauter... |
ORPHA:33364 |
| Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Microphthalmia |
ORPHA:2328 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Short stature, Growth delay, Cranial asymmetry |
OMIM:163200 |
| 49,Xxxxy Syndrome |
|
Short stature, Brachycephaly, Pulmonary embolism |
ORPHA:96264 |
| Trichohepatoneurodevelopmental Syndrome |
|
Plagiocephaly, Cerebellar hypoplasia, Microcephaly, Brachycephaly, Polyhydramnios, Patent ductus ... |
OMIM:618268 |
| Turnpenny-Fry Syndrome |
|
Aortic regurgitation, Cerebellar vermis hypoplasia, Plagiocephaly, Intrauterine growth retardatio... |
OMIM:618371 |
| Silver-Russell Syndrome 3 |
|
Clinodactyly of the 5th finger, Small hand, Syndactyly |
OMIM:616489 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Plagiocephaly, Cerebellar atrophy, Ascites, Microcephaly, Brachycephaly, Short stature |
OMIM:301072 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Short stature, Microcephaly, Brachycephaly, Plagiocephaly |
ORPHA:500055 |
| Anauxetic Dysplasia 3 |
|
Severe short stature, Plagiocephaly |
OMIM:618853 |
| Lig4 Syndrome |
|
Telangiectasia, Microcephaly, Brachycephaly |
OMIM:606593 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Cerebellar atrophy, Lateral ventricle dilatation, Short umbilical cord, Short humerus, Short femu... |
OMIM:618367 |
| Cartilage-Hair Hypoplasia |
|
Rhizomelia, Spinal dysraphism, Disproportionate short-limb short stature, Cardiomyopathy, Brachyc... |
ORPHA:175 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Brachycephaly, Posterior plagiocephaly, Growth delay, Microcephaly |
OMIM:617798 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Epistaxis, Cerebellar vermis hypoplasia, Posterior plagiocephaly, Plagiocephaly, Frontal bossing,... |
OMIM:619841 |
| Toxic Epidermal Necrolysis |
|
Polydipsia, Dysphagia |
ORPHA:537 |
| Noonan Syndrome 14 |
|
Clinodactyly, Lateral ventricle dilatation, Limited elbow extension, Cubitus valgus, Deep palmar ... |
OMIM:619745 |
| Treacher-Collins Syndrome |
|
Branchial fistula, Encephalocele, Brachycephaly, Microphthalmia, Frontal bossing, Patent ductus a... |
ORPHA:861 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Short thumb, Preaxial polydactyly, Intrauterine growth retardation, Radi... |
OMIM:192350 |
| Trisomy 9P |
|
Microcephaly, Brachycephaly |
ORPHA:236 |
| Angelman Syndrome |
|
Secondary microcephaly, Brachycephaly, Flat occiput |
OMIM:105830 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Self-injurious behavior, Polydipsia, Cyanosis, Polyphagia, Aggressive behavior, Compulsive behaviors |
ORPHA:293987 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Ventriculomegaly, Genu valgum, Lateral ventricle dilatation |
ORPHA:488627 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Polyhydramnios, Septo-optic dysplasia, Microphthalmia |
ORPHA:3301 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Tricuspid regurgitation, Plagiocephaly, Mitral regurgitation, Sinus bradycardia |
OMIM:261990 |
| Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Umbilical hernia, Mitral regurgitation, Brachycephaly, Short stature, Hyper... |
OMIM:611962 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Disproportionate short-limb short stature, Intrauterine growth retardation, Mild postnatal growth... |
OMIM:101800 |
| Beck-Fahrner Syndrome |
|
Microcephaly, Brachycephaly |
OMIM:618798 |
| White-Sutton Syndrome |
|
Cerebellar atrophy, Hypoplasia of the pons, Microcephaly, Brachycephaly, Short stature |
ORPHA:468678 |
| Otodental Syndrome |
|
Lens coloboma, Microphthalmia |
ORPHA:2791 |
| Basal Cell Nevus Syndrome 1 |
|
Parietal bossing, Frontal bossing, Spina bifida, Microphthalmia |
OMIM:109400 |
| Craniosynostosis And Dental Anomalies |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Chiari malformation, Oxycephaly, Trigonoce... |
OMIM:614188 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Rhizomelia, Abnormally large globe, Brachycephaly, Short stature, Craniosynostosis, Frontal bossing |
OMIM:245600 |
| Acrodysostosis |
|
Short stature, Brachycephaly, Frontal bossing |
ORPHA:950 |
| Meckel Syndrome |
|
Oligohydramnios, Anophthalmia, Encephalocele, Aplasia/Hypoplasia of the iris, Microcephaly, Micro... |
ORPHA:564 |
| Prader-Willi Syndrome |
|
Small hand, Ventriculomegaly, Radial deviation of finger, Clinodactyly, Intrauterine growth retar... |
OMIM:176270 |
| Congenital Primary Aphakia |
|
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... |
ORPHA:83461 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly, Brachydactyly, Sho... |
OMIM:615503 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Plagiocephaly, Hypoplasia of the pons, Cerebellar hypoplasia, Abnormal dentate nucleus morphology... |
OMIM:619512 |
| Cleidocranial Dysplasia |
|
Short stature, Spina bifida occulta, Brachycephaly, Frontal bossing |
ORPHA:1452 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Plagiocephaly, Growth delay, Anophthalmia, Truncus arteriosus, Microphthalmia, Frontal bossing |
ORPHA:2538 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Severe short stature, Chylothorax, Lymphedema, Pleural effusion, Anophthalmia, Microcephaly, Micr... |
ORPHA:2526 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Plagiocephaly, Abnormally large globe |
OMIM:239300 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Microcephaly, Plagiocephaly |
OMIM:619680 |
| Raine Syndrome |
|
Plagiocephaly, Brachyturricephaly, Neonatal death, Microcephaly, Brachycephaly, Short stature |
OMIM:259775 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Intrauterine growth retardation, Pulmonary arterial hypertension, Microphthalmia,... |
OMIM:620186 |
| 2Q31.1 Microdeletion Syndrome |
|
Short stature, Trigonocephaly, Microcephaly, Microphthalmia |
ORPHA:251014 |
| Marshall Syndrome |
|
Short stature, Brachycephaly, Frontal bossing, Thickened calvaria |
ORPHA:560 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Short thumb, Enlarged cerebellum, Colpocephaly, Brachydactyly, Clinodactyly of the 5th finger, Ta... |
ORPHA:477993 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly |
OMIM:615631 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Congenital bilateral hip dislocation, Syndactyly |
ORPHA:404451 |
| Aicardi Syndrome |
|
Plagiocephaly, Microcephaly, Aplasia/Hypoplasia of the cerebellum, Delayed puberty, Microphthalmia |
ORPHA:50 |
| Craniofrontonasal Syndrome |
|
Coronal craniosynostosis, Umbilical hernia, Brachycephaly, Short stature, Frontal bossing |
OMIM:304110 |
| Kleefstra Syndrome |
|
Short stature, Brachycephaly, Arrhythmia, Microcephaly |
ORPHA:261494 |
| Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Hypoplasia of the frontal bone, Brachycephaly, Microphthalmia |
OMIM:229400 |
| Dysostosis, Stanescu Type |
|
Short stature, Microcephaly, Brachycephaly |
ORPHA:1798 |
| Gabriele-De Vries Syndrome |
|
Lateral ventricle dilatation, Sandal gap, Intrauterine growth retardation, Hallux valgus, Long fi... |
OMIM:617557 |
| Microphthalmia, Lenz Type |
|
Short stature, Microcephaly, Microphthalmia |
ORPHA:568 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Telangiectasia, Microcephaly, Corneal neovascularization, Microphthalmia |
OMIM:278730 |
| Alg9-Cdg |
|
Rhizomelia, Cerebellar atrophy, Tricuspid regurgitation, Oligohydramnios, Brachycephaly, Progress... |
ORPHA:79328 |
| Chromosome 13Q14 Deletion Syndrome |
|
Growth delay, Umbilical hernia, Microphthalmia, Dolichocephaly, Frontal bossing |
OMIM:613884 |
| Cranioectodermal Dysplasia 2 |
|
Rhizomelia, Plagiocephaly, Frontal bossing, Dolichocephaly, Short stature, Polyhydramnios, Cranio... |
OMIM:613610 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Brachycephaly, Flat occiput |
OMIM:618797 |
| 48,Xxxy Syndrome |
|
Brachycephaly, Pulmonary embolism |
ORPHA:96263 |
| Charge Syndrome |
|
Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardation, Anophthalmia, Mi... |
ORPHA:138 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Short stature, Microphthalmia |
ORPHA:1806 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Cerebellar atrophy, Secondary microcephaly, Postnatal growth retardation, Brachycephaly, Progress... |
OMIM:616263 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Truncus arteriosus, Microcephaly, Spina bifida, Microphthalmia, Short statu... |
ORPHA:508498 |
| Adnp Syndrome |
|
Plagiocephaly, Umbilical hernia, Trigonocephaly, Microcephaly, Brachycephaly, Short stature |
ORPHA:404448 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| 7Q11.23 Microduplication Syndrome |
|
Aortic valve stenosis, Cerebellar hypoplasia, Brachycephaly, Craniosynostosis, Short stature, Dol... |
ORPHA:96121 |
| Baller-Gerold Syndrome |
|
Severe short stature, Lambdoidal craniosynostosis, Coronal craniosynostosis, Chiari malformation,... |
OMIM:218600 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Chiari type I malformation, Plagiocephaly, Turricephaly |
OMIM:620224 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Dubowitz Syndrome |
|
Hypoplasia of the iris, Postnatal growth retardation, Intrauterine growth retardation, Microcepha... |
OMIM:223370 |
| Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Umbilical hernia, Brachydactyly, Hip dysplasia, S... |
OMIM:620654 |
| Anterior Segment Dysgenesis 2 |
|
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia |
OMIM:610256 |
| Prader-Willi Syndrome Due To Translocation |
|
Small hand, Clinodactyly, Lateral ventricle dilatation, Overlapping toe, Clinodactyly of the 4th ... |
ORPHA:177907 |
| Rothmund-Thomson Syndrome, Type 3 |
|
Short distal phalanx of finger, Talipes equinovarus, Short digit, Brachydactyly, Proximal placeme... |
OMIM:615789 |
| Fanconi Anemia, Complementation Group C |
|
Short stature, Microcephaly, Intrauterine growth retardation, Microphthalmia |
OMIM:227645 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Plagiocephaly, Proportionate short stature, Microcephaly, Growth delay, Patent ductus arteriosus |
OMIM:613457 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Ulnar deviation of finger, Umbilical hernia, Patellar aplasia, Acetabular dysplasia, Down-sloping... |
OMIM:265000 |
| Arthrogryposis, Distal, Type 4 |
|
Cranial asymmetry |
OMIM:609128 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Dolichocephaly, Plagiocephaly, Frontal bossing |
ORPHA:457279 |
| Rabson-Mendenhall Syndrome |
|
Polydipsia |
ORPHA:769 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Brachycephaly, Atrioventricular block, Hypertension |
ORPHA:371428 |
| Neurofaciodigitorenal Syndrome |
|
Short stature, Brachycephaly, Intrauterine growth retardation, Plagiocephaly |
ORPHA:2673 |
| Duane Retraction Syndrome |
|
Plagiocephaly, Optic disc hypoplasia, Aniridia, Microcephaly, Spina bifida occulta, Hypoplastic i... |
ORPHA:233 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Talipes equinovarus, Colpocephaly, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:617260 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Buphthalmos, Brachycephaly, Rieger anomaly, Microcephaly |
ORPHA:521445 |
| Acrofrontofacionasal Dysostosis 1 |
|
Short stature, Brachycephaly, Microphthalmia |
OMIM:201180 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Microcephaly, Brachycephaly |
OMIM:619244 |
| Fanconi Anemia, Complementation Group L |
|
Cerebellar hypoplasia, Intrauterine growth retardation, Growth delay, Microphthalmia |
OMIM:614083 |
| Microphthalmia/Coloboma 12 |
|
Optic nerve aplasia, Growth delay, Microphthalmia |
OMIM:120200 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Postnatal growth retardation, Microcephaly, Brachycephaly, Polyhydramnios, Craniosynostosis, Shor... |
OMIM:213980 |
| Fryns Syndrome |
|
Polyhydramnios, Dandy-Walker malformation, Microphthalmia |
ORPHA:2059 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachycephaly, Frontal bossing |
OMIM:207410 |
| Rubinstein-Taybi Syndrome 1 |
|
Broad distal phalanx of finger, Broad thumb, Radial deviation of thumb terminal phalanx, Short th... |
OMIM:180849 |
| Gapo Syndrome |
|
Frontal bossing, Plagiocephaly, Growth delay, Umbilical hernia |
OMIM:230740 |
| Adams-Oliver Syndrome 5 |
|
Umbilical hernia, Brachydactyly, Syndactyly |
OMIM:616028 |
| Bardet-Biedl Syndrome 6 |
|
Postaxial polydactyly, Syndactyly |
OMIM:605231 |
| Au-Kline Syndrome |
|
Plagiocephaly, Dolichocephaly, Sagittal craniosynostosis, Lipomyelomeningocele, Craniosynostosis,... |
OMIM:616580 |
| Cockayne Syndrome Type 3 |
|
Cerebellar dentate nucleus calcification, Subdural hemorrhage, Cardiomyopathy, Mild postnatal gro... |
ORPHA:90324 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Decreased calvarial ossification, Neonatal death, Brachycephaly, Microphthalmia, Frontal bossing |
OMIM:617925 |
| Persistent Hyperplastic Primary Vitreous |
|
Hemorrhage of the eye, Phthisis bulbi, Macular hypoplasia, Microphthalmia, Buphthalmos |
ORPHA:91495 |
| Momo Syndrome |
|
Brachycephaly, Frontal bossing |
OMIM:157980 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Deep palmar crease, Choroid plexus cyst, Adducted thumb, Lateral ventricle dilatation |
ORPHA:293725 |
| Erdheim-Chester Disease |
|
Polydipsia |
ORPHA:35687 |
| Loeys-Dietz Syndrome 2 |
|
Joint contracture of the hand, Chiari malformation, Umbilical hernia, Absent distal phalanges, Ar... |
OMIM:610168 |
| Kleefstra Syndrome 1 |
|
Microcephaly, Brachycephaly |
OMIM:610253 |
| Infantile Nephropathic Cystinosis |
|
Polydipsia |
ORPHA:411629 |
| Osteogenesis Imperfecta, Type Xi |
|
Short stature, Brachycephaly |
OMIM:610968 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Microcephaly, Pulmonary arterial hypertension, Growth delay, Plagiocephaly |
OMIM:254940 |
| Ring Chromosome 7 Syndrome |
|
Plagiocephaly, Abnormal cerebellum morphology, Microcephaly, Brachycephaly, Severe intrauterine g... |
ORPHA:1449 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Umbilical hernia, Syndactyly |
OMIM:614520 |
| Cockayne Syndrome |
|
Severe short stature, Cerebellar dentate nucleus calcification, Growth delay, Cerebellar atrophy,... |
ORPHA:191 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microcephaly, Microphthalmia, Retinal hemorrhage, Short stature |
OMIM:308300 |
| Fanconi Anemia, Complementation Group N |
|
Postnatal growth retardation, Microcephaly, Microphthalmia |
OMIM:610832 |
| Saethre-Chotzen Syndrome |
|
Short stature, Craniosynostosis, Brachycephaly, Plagiocephaly |
ORPHA:794 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Umbilical hernia, Joint swelling, Delayed puberty, Microphthalmia, Short stature, Buphthalmos, Fr... |
ORPHA:534 |
| Hamamy Syndrome |
|
Down-sloping shoulders, Long toe, Tapered finger, Long fingers, Hip dysplasia, Short 2nd finger, ... |
OMIM:611174 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Restrictive cardiomyopathy, Cerebellar atrophy, Brachycephaly, Craniosynostosis, Patent ductus ar... |
ORPHA:369837 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Chiari malformation, Right-to-left shunt, Pleural effusion, Nonimmune hydrops fetalis, Neonatal d... |
OMIM:265380 |
| Degcags Syndrome |
|
Plagiocephaly, Intrauterine growth retardation, Microcephaly, Pulmonary arterial hypertension, Mi... |
OMIM:619488 |
| Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Umbilical hernia, Anophthalmia, Phthisis bulbi, Microcephaly, Dandy-Walker... |
OMIM:300166 |
| Neurocardiofaciodigital Syndrome |
|
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Dilated fourth ventricle, Polydactyly... |
OMIM:619869 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Cerebellar vermis hypoplasia, Posterior plagiocephaly, Umbilical hernia, Scaphocephaly, Microceph... |
OMIM:620330 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Plagiocephaly |
ORPHA:2063 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Phthisis bulbi, Buphthalmos, Hyphema, Microphthalmia |
OMIM:221900 |
| Loeys-Dietz Syndrome 5 |
|
Mitral regurgitation, Brachycephaly, Short stature, Dolichocephaly, Growth delay |
OMIM:615582 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Polydipsia, Dysphagia |
ORPHA:99880 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Roberts-Sc Phocomelia Syndrome |
|
Finger aplasia, Absent thumb, Clinodactyly, Radial deviation of finger, Stillbirth, Elbow flexion... |
OMIM:268300 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619278 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Short stature, Plagiocephaly |
ORPHA:2916 |
| Wolfram Syndrome |
|
Polydipsia |
ORPHA:3463 |
| Down Syndrome |
|
Short stature, Brachycephaly, Delayed puberty, Umbilical hernia |
ORPHA:870 |
| Microphthalmia/Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
| Oculoauricular Syndrome |
|
Macular hypoplasia, Phthisis bulbi, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
| Monosomy 9P |
|
Trigonocephaly, Calvarial skull defect, Microcephaly, Brachycephaly, Microphthalmia |
ORPHA:261112 |
| Doors Syndrome |
|
Sirenomelia, Prominent occiput, Small cerebellar cortex, Anterior plagiocephaly, Microcephaly, Br... |
ORPHA:79500 |
| Parathyroid Carcinoma |
|
Polydipsia, Dysphagia |
ORPHA:143 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Broad distal phalanx of finger, Broad thumb, Chiari malformation, Broad hallux, Abnormal proximal... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Broad distal phalanx of finger, Broad thumb, Chiari malformation, Broad hallux, Abnormal proximal... |
ORPHA:353277 |
| Atelosteogenesis Type Ii |
|
Polyhydramnios, Rhizomelic arm shortening, Plagiocephaly, Rhizomelia |
ORPHA:56304 |
| Fanconi Anemia, Complementation Group E |
|
Short stature, Microcephaly, Microphthalmia |
OMIM:600901 |
| Branchioskeletogenital Syndrome |
|
Umbilical hernia, Blepharochalasis, Thickened calvaria, Microcephaly, Brachycephaly, Craniosynost... |
ORPHA:1299 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Polydipsia |
ORPHA:93111 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Growth delay, Microphthalmia |
OMIM:614230 |
| Peters-Plus Syndrome |
|
Rhizomelia, Abnormal pelvic girdle bone morphology, Square pelvis bone, Short toe, Ventriculomega... |
OMIM:261540 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Chiari malformation, Frontal bossing, Turricephaly, Brachycephaly, Delayed puberty, Stillbirth, C... |
ORPHA:95699 |
| Arboleda-Tham Syndrome |
|
Plagiocephaly, Frontal bossing, Intrauterine growth retardation, Upper eyelid edema, Microcephaly... |
OMIM:616268 |
| Klippel-Trenaunay-Weber Syndrome |
|
Macrodactyly, Hand polydactyly, Finger aplasia, Syndactyly |
OMIM:149000 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Short stature, Plagiocephaly |
OMIM:615656 |
| Sclerosteosis 1 |
|
Abnormal pelvic girdle bone morphology, Deviation of finger, 2-3 finger syndactyly, Cortically de... |
OMIM:269500 |
| Tukel Syndrome |
|
Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly |
OMIM:609428 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Plagiocephaly, Postnatal growth retardation, Oligohydramnios, Craniosynostosis, Frontal bossing |
ORPHA:536467 |
| Helsmoortel-Van Der Aa Syndrome |
|
Small hand, Ventriculomegaly, Sandal gap, Prominent fingertip pads, Short 4th toe, Broad hallux, ... |
OMIM:615873 |
| Hydrolethalus Syndrome 1 |
|
Intrauterine growth retardation, Microphthalmia, Stillbirth, Polyhydramnios, Anencephaly, Dandy-W... |
OMIM:236680 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Severe short stature, Brachycephaly |
OMIM:156400 |
| Fanconi Anemia, Complementation Group A |
|
Short stature, Microcephaly, Microphthalmia |
OMIM:227650 |
| Humeroradial Synostosis |
|
Brachycephaly |
OMIM:236400 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Coronal craniosynostosis, Plagiocephaly, Parietal foramina, Brachycephaly, Frontal bossing |
ORPHA:85199 |
| Bardet-Biedl Syndrome 1 |
|
Postaxial foot polydactyly, Radial deviation of finger, Postaxial polydactyly, Brachydactyly, Pos... |
OMIM:209900 |
| Cree Impaired Intellectual Development Syndrome |
|
Brachycephaly |
OMIM:606851 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Short stature, Microcephaly, Unilateral microphthalmos |
OMIM:618874 |
| Frank-Ter Haar Syndrome |
|
Abnormally large globe, Brachycephaly, Buphthalmos, Growth delay, Flat occiput |
OMIM:249420 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Ulnar deviation of finger, Ventriculomegaly, Clinodactyly, Sandal gap, Radial deviation of finger... |
OMIM:618164 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Severe short stature, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitatio... |
ORPHA:2556 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microcephaly, Intrauterine growth retardation, Oligohydramnios, Microphthalmia |
OMIM:608670 |
| Peters Plus Syndrome |
|
Rhizomelia, Disproportionate short-limb short stature, Umbilical hernia, Frontal bossing, Postnat... |
ORPHA:709 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short stature, Postnatal growth retardation, Rhizomelia, Microphthalmia |
OMIM:608940 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Telangiectasia, Short stature, Microphthalmia, Frontal bossing |
OMIM:268400 |
| Distal Renal Tubular Acidosis |
|
Polydipsia |
ORPHA:18 |
| Bartsocas-Papas Syndrome 1 |
|
Hypoplastic scapulae, Absent thumb, Short thumb, Oligodactyly, Hypoplastic iliac wing, Intrauteri... |
OMIM:263650 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Spinal dysraphism, Growth delay, Plagiocephaly, Frontal bossing, Hypertrophic cardiomyopathy, Pos... |
ORPHA:96334 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Clinodactyly, Intrauterine growth retardation, Syndactyly, Brachydactyly, Severe intrauterine gro... |
ORPHA:96182 |
| Mosaic Trisomy 16 |
|
Short forearm, Short thumb, Clinodactyly, Intrauterine growth retardation, Large placenta, Single... |
ORPHA:1708 |
| Cartilage-Hair Hypoplasia |
|
Brachycephaly, Neonatal short-limb short stature, Absent pubertal growth spurt |
OMIM:250250 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Short stature, Brachycephaly, Thickened calvaria |
OMIM:309583 |
| Ring Chromosome 12 Syndrome |
|
Abnormal 5th finger morphology, Symphalangism of the thumb, Clinodactyly, Syndactyly |
ORPHA:1439 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short stature, Brachycephaly, Patent ductus arteriosus, Pulmonic stenosis |
OMIM:618223 |
| Arima Syndrome |
|
Polydipsia |
OMIM:243910 |
| Fanconi Anemia, Complementation Group D2 |
|
Short stature, Microcephaly, Patent ductus arteriosus, Microphthalmia |
OMIM:227646 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Severe short stature, Rhizomelia, Microphthalmia |
ORPHA:85167 |
| Stolerman Neurodevelopmental Syndrome |
|
Clinodactyly of the 5th finger, Broad palm, Syndactyly |
OMIM:618505 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Prominent occiput, Truncus arteriosus, Turricephaly, Microcephaly, Brachyce... |
OMIM:612474 |
| Fibrochondrogenesis |
|
Short stature, Plagiocephaly |
ORPHA:2021 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Saethre-Chotzen Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Plagiocephaly, Skull asymmetry, Parietal f... |
OMIM:101400 |
| Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
| Holoprosencephaly 1 |
|
Proboscis, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Short stature |
OMIM:236100 |
| Juvenile Nephropathic Cystinosis |
|
Polydipsia |
ORPHA:411634 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Plagiocephaly, Tricuspid regurgitation, Cerebellar hypoplasia, Chiari type I malformation, Thicke... |
ORPHA:466791 |
| Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
| Cornelia De Lange Syndrome 1 |
|
Short stature, Brachycephaly, Intrauterine growth retardation, Microcephaly |
OMIM:122470 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Short stature, Microcephaly, Brachycephaly |
OMIM:601701 |
| Kaufman Oculocerebrofacial Syndrome |
|
Short stature, Microcephaly, Brachycephaly |
OMIM:244450 |
| Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Cerebellar vermis hypoplasia, Plagiocephaly, Hypoplasia of the pons, Microcephaly, Sagittal crani... |
OMIM:620455 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Polydipsia |
OMIM:602522 |
| Faundes-Banka Syndrome |
|
Fetal ascites, Plagiocephaly, Intrauterine growth retardation, Delayed puberty, Primary microceph... |
OMIM:619376 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Brachycephaly, Plagiocephaly, Frontal bossing, Umbilical hernia |
OMIM:280000 |
| Fucosidosis |
|
Brachycephaly |
ORPHA:349 |
| Ayme-Gripp Syndrome |
|
Craniofacial asymmetry, Chiari type I malformation, Brachycephaly, Short stature, Pericarditis |
OMIM:601088 |
| Oculodentodigital Dysplasia |
|
Microcephaly, Arrhythmia, Microphthalmia |
OMIM:164200 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Short stature, Brachycephaly, Frontal bossing |
OMIM:259600 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Plagiocephaly, Oligohydramnios, Thickened calvaria, Brachycephaly, Pulmonary arterial hypertensio... |
ORPHA:2785 |
| 14Q22Q23 Microdeletion Syndrome |
|
Short stature, Brachycephaly, Anophthalmia, Optic nerve aplasia |
ORPHA:264200 |
| Witteveen-Kolk Syndrome |
|
Branchial fistula, Growth delay, Frontal bossing, Intrauterine growth retardation, Microcephaly, ... |
OMIM:613406 |
| Mycophenolate Mofetil Embryopathy |
|
Hydrops fetalis, Microphthalmia |
ORPHA:268249 |
| 8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
| Postaxial Acrofacial Dysostosis |
|
Congenital hip dislocation, Short thumb, Radioulnar synostosis, Hypoplasia of the radius, Hypopla... |
OMIM:263750 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Plagiocephaly, Spina bifida, Dolichocephaly, Frontal bossing, Patent ductus arteriosus |
OMIM:619480 |
| Gitelman Syndrome |
|
Salt craving, Polydipsia |
ORPHA:358 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Broad thumb, Clinodactyly, Brachydactyly, Camptodactyly, Short phalanx of finger, Mesomelia, Synd... |
OMIM:616894 |
| Focal Dermal Hypoplasia |
|
Chiari malformation, Umbilical hernia, Myelomeningocele, Aniridia, Anophthalmia, Telangiectasia, ... |
OMIM:305600 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Rhizomelia, Anophthalmia, Microphthalmia |
OMIM:615877 |
| Phace Syndrome |
|
Cerebellar hypoplasia, Microcephaly, Microphthalmia, Lens coloboma, Dandy-Walker malformation, Op... |
ORPHA:42775 |
| Kbg Syndrome |
|
Radial deviation of finger, Ulnar deviation of the 2nd finger, Single transverse palmar crease, C... |
OMIM:148050 |
| Norrie Disease |
|
Hypoplasia of the iris, Buphthalmos, Microphthalmia |
OMIM:310600 |
| Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Plagiocephaly, Congestive heart failure, Palpebral edema, Intrauterine grow... |
OMIM:619475 |
| Fryns Syndrome |
|
Chylothorax, Stillbirth, Microphthalmia, Polyhydramnios, Dandy-Walker malformation |
OMIM:229850 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Polyhydramnios, Plagiocephaly |
OMIM:618548 |
| 6Q Terminal Deletion Syndrome |
|
Cerebellar hypoplasia, Colpocephaly, Hallux valgus, Clinodactyly |
ORPHA:75857 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Hypoplasia of the frontal bone, Microphthalmia |
ORPHA:306542 |
| 8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Infancy onset short-trunk short stature, Branchial cyst, Bilateral m... |
ORPHA:508488 |
| Coffin-Siris Syndrome 1 |
|
Plagiocephaly, Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardation, M... |
OMIM:135900 |
| Pallister-Hall Syndrome |
|
Umbilical hernia, Trigonocephaly, Intrauterine growth retardation, Oligohydramnios, Scaphocephaly... |
ORPHA:672 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cerebellar dysplasia, Hypoplasia of the retina, Cerebellar hypoplasia, Microcephaly, Microphthalm... |
OMIM:253280 |
| Distal Deletion 12Q |
|
Frontal bossing, Microcephaly, Brachycephaly, Short stature, Growth delay, Patent ductus arteriosus |
ORPHA:96149 |
| Ohdo Syndrome, X-Linked |
|
Microphthalmia |
OMIM:300895 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microcephaly, Microphthalmia |
OMIM:110100 |
| Specc1L-Related Hypertelorism Syndrome |
|
Brachycephaly, Arrhythmia, Patent ductus arteriosus, Umbilical hernia |
ORPHA:1519 |
| Microphthalmia, Syndromic 6 |
|
Lambdoidal craniosynostosis, Inferior cerebellar vermis hypoplasia, Plagiocephaly, Anophthalmia, ... |
OMIM:607932 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
| Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Short stature, Brachycephaly, Frontal bossing |
OMIM:616728 |
| Mend Syndrome |
|
Aortic valve stenosis, Short stature, Dandy-Walker malformation, Microphthalmia |
ORPHA:401973 |
| Carpenter Syndrome 2 |
|
Umbilical hernia, Tricuspid regurgitation, Trigonocephaly, Oxycephaly, Brachycephaly, Craniosynos... |
OMIM:614976 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Frontal bossing, Intrauterine growth retardation, Microcephaly, Brachycephaly, Polyhydramnios, Sh... |
OMIM:617157 |
| Cystinosis, Nephropathic |
|
Polydipsia, Dysphagia |
OMIM:219800 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Craniosynostosis, Microcephaly, Parietal foramina, Microphthalmia |
OMIM:609945 |
| Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
| Scalp-Ear-Nipple Syndrome |
|
Broad thumb, Finger syndactyly, Lateral ventricle dilatation, 2-3 toe syndactyly, Clinodactyly of... |
OMIM:181270 |
| Osteogenesis Imperfecta |
|
Aortic regurgitation, Rhizomelia, Umbilical hernia, Intrauterine growth retardation, Prominent oc... |
ORPHA:666 |
| Wiedemann-Rautenstrauch Syndrome |
|
Optic disc hypoplasia, Frontal bossing, Intrauterine growth retardation, Cerebellar hypoplasia, C... |
ORPHA:3455 |
| Cornelia De Lange Syndrome |
|
Intrauterine growth retardation, Increased nuchal translucency, Severe postnatal growth retardati... |
ORPHA:199 |
| Branchiooculofacial Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Branchial anomaly, Anophthalmia, M... |
OMIM:113620 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Aortic regurgitation, Umbilical hernia, Tricuspid regurgitation, Mitral regurgitation, Brachycephaly |
OMIM:601776 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Plagiocephaly, Congestive heart failure, Microcephaly, Pulmonary arterial hypertension, Short sta... |
ORPHA:444077 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Brachycephaly, Growth delay |
OMIM:601353 |
| Holoprosencephaly 9 |
|
Anophthalmia, Microcephaly, Microphthalmia, Short stature, Occipital meningocele, Optic nerve hyp... |
OMIM:610829 |
| Fraser Syndrome |
|
Umbilical hernia, Myelomeningocele, Calvarial skull defect, Encephalocele, Anophthalmia, Microcep... |
ORPHA:2052 |
| X-Linked Intellectual Disability, Snyder Type |
|
Short stature, Cerebral edema, Brachycephaly |
ORPHA:3063 |
| Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Brachycephaly |
ORPHA:2988 |
| Acro-Renal-Ocular Syndrome |
|
Postnatal growth retardation, Optic disc hypoplasia, Microphthalmia |
ORPHA:959 |
| Kabuki Syndrome 1 |
|
Short 5th finger, Congenital hip dislocation, Prominent fingertip pads, Lateral ventricle dilatat... |
OMIM:147920 |
| Renpenning Syndrome 1 |
|
Short stature, Microcephaly, Brachycephaly, Microphthalmia |
OMIM:309500 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Plagiocephaly, Postnatal growth retardation, Microcephaly, Pulmonary arterial hypertension, Short... |
OMIM:613355 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Brachycephaly, Frontal bossing |
OMIM:616078 |
| Proximal Renal Tubular Acidosis |
|
Polydipsia |
ORPHA:47159 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Short 5th finger, Lateral ventricle dilatation, Camptodactyly of finger, Agenesis of corpus callo... |
OMIM:607872 |
| Fraser Syndrome 2 |
|
Oligohydramnios, Microphthalmia |
OMIM:617666 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Plagiocephaly, Optic nerve hypoplasia |
ORPHA:45358 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Plagiocephaly, Olivopontocerebellar hypoplasia, Optic nerve hypoplasia |
ORPHA:457284 |
| Charge Syndrome |
|
Umbilical hernia, Postnatal growth retardation, Unilateral microphthalmos, Anophthalmia, Microcep... |
OMIM:214800 |
| Rapp-Hodgkin Syndrome |
|
2-3 toe cutaneous syndactyly, Palmoplantar keratoderma, Syndactyly |
OMIM:129400 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Down-sloping shoulders, Broad palm, Metatarsus adductus, Camptodactyly, Clinodactyly of the 5th f... |
OMIM:227330 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos, Postnatal growth retardation, Intrauterine growth retardation, Short st... |
ORPHA:93325 |
| Congenital Myopathy 13 |
|
Short stature, Microcephaly, Brachycephaly |
OMIM:255995 |
| Liver Disease, Severe Congenital |
|
Plagiocephaly, Umbilical hernia, Ascites, Intrauterine growth retardation, Pulmonary edema, Abnor... |
OMIM:619991 |
| Proboscis Lateralis |
|
Proboscis, Anophthalmia, Microphthalmia, Patent ductus arteriosus, Optic nerve hypoplasia |
ORPHA:141099 |
| Faciocardiorenal Syndrome |
|
Plagiocephaly |
ORPHA:1973 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia |
ORPHA:731 |
| Neuroocular Syndrome 1 |
|
Umbilical hernia, Hypoplasia of the fovea, Microcephaly, Microphthalmia, Short stature, Lens colo... |
OMIM:619539 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Tricuspid regurgitation, Postnatal growth retardation, Mitral regurgitation, Brachycephaly, Short... |
OMIM:619127 |
| Aicardi-Goutières Syndrome |
|
Plagiocephaly, Hypertrophic cardiomyopathy, Microcephaly, Raynaud phenomenon, Short stature |
ORPHA:51 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Short stature, Phthisis bulbi, Microcephaly, Microphthalmia |
OMIM:259770 |
| Bloom Syndrome |
|
Clinodactyly of the 5th finger, Hand polydactyly, Intrauterine growth retardation, Syndactyly |
OMIM:210900 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Short stature, Microcephaly, Brachycephaly, Growth delay |
OMIM:619950 |
| Gorlin Syndrome |
|
Brachycephaly, Frontal bossing |
ORPHA:377 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Trigonocephaly, Microcephaly, Brachycephaly, Short stature, Craniosynostosis |
OMIM:309590 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Cerebellar vermis hypoplasia, Cardiomyopathy, Dilated fourth ventricle, Cerebellar hypoplasia, Br... |
ORPHA:480880 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Short stature, Brachycephaly, Frontal bossing |
ORPHA:1974 |
| Robinow Syndrome |
|
Short distal phalanx of finger, Radioulnar dislocation, Umbilical hernia, Bifid distal phalanx of... |
ORPHA:97360 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Brachycephaly |
ORPHA:2062 |
| Bartter Syndrome, Type 2, Antenatal |
|
Polydipsia |
OMIM:241200 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Short stature, Microcephaly, Microphthalmia |
OMIM:616734 |
| 1P36 Deletion Syndrome |
|
Dilated cardiomyopathy, Telangiectasia, Microcephaly, Brachycephaly, Short stature, Frontal bossi... |
ORPHA:1606 |
| Hypomagnesemia 3, Renal |
|
Polydipsia |
OMIM:248250 |
| Fraser Syndrome 1 |
|
Bilateral microphthalmos, Myelomeningocele, Calvarial skull defect, Encephalocele, Anophthalmia, ... |
OMIM:219000 |
| Genitopatellar Syndrome |
|
Congenital hip dislocation, Inferior pubic ramus hypoplasia, Patellar aplasia, Hip contracture, A... |
OMIM:606170 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Bicoronal synostosis, Delayed puberty, Anterior plagiocephaly |
OMIM:619718 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2250 |
| Congenital Disorder Of Deglycosylation 1 |
|
Microcephaly, Brachycephaly |
OMIM:615273 |
| Limb-Mammary Syndrome |
|
Toe syndactyly, Oligodactyly, Clinodactyly of the 5th finger, 3-4 finger cutaneous syndactyly, Sy... |
ORPHA:69085 |
| Wiedemann-Rautenstrauch Syndrome |
|
Chiari malformation, Intrauterine growth retardation, Parietal bossing, Brachycephaly, Short stat... |
OMIM:264090 |
| Kenny-Caffey Syndrome, Type 2 |
|
Severe short stature, Microphthalmia |
OMIM:127000 |
| Grange Syndrome |
|
Brachydactyly, Finger clinodactyly, Syndactyly |
OMIM:602531 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Progressive ventriculomegaly, Ventriculomegaly, Chiari malformation, Slender long bone, Absent th... |
ORPHA:500150 |
| Common Variable Immunodeficiency |
|
Vasculitis, Brachycephaly |
ORPHA:1572 |
| Cleidocranial Dysplasia 2 |
|
Plagiocephaly |
OMIM:620099 |
| Viss Syndrome |
|
Umbilical hernia, Frontal bossing, Microcephaly, Brachycephaly, Pulmonary arterial hypertension, ... |
OMIM:619472 |
| Lacrimoauriculodentodigital Syndrome |
|
Toe syndactyly, Absent thumb, Finger syndactyly, Clinodactyly, Short thumb, Abnormal thumb morpho... |
ORPHA:2363 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Brachycephaly, Pulmonary arterial hypertension, Delayed puberty... |
ORPHA:2072 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Broad thumb, Lateral ventricle dilatation, Polydactyly, Broad first metatarsal, Postaxial polydac... |
OMIM:619534 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebellar atrophy, Hypoplasia of the iris, Ischemic stroke, Microphthalmia, Corneal neovasculari... |
OMIM:175780 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Chiari malformation, Frontal bossing, Oligohydramnios, Microcephaly, Brachycephaly, Craniosynosto... |
OMIM:201750 |
| Holoprosencephaly 2 |
|
Cerebellar hypoplasia, Microcephaly, Proboscis, Microphthalmia |
OMIM:157170 |
| X-Linked Intellectual Disability, Armfield Type |
|
Short stature, Brachycephaly, Patent ductus arteriosus |
ORPHA:85276 |
| Down Syndrome |
|
Short stature, Brachycephaly, Patent ductus arteriosus |
OMIM:190685 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aortic valve stenosis, Cerebellar vermis hypoplasia, Hyphema, Secondary microcephaly, Enlarged ce... |
ORPHA:261552 |
| Traboulsi Syndrome |
|
Microphthalmia |
OMIM:601552 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microcephaly, Microphthalmia |
ORPHA:3186 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Brachycephaly |
OMIM:608980 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cerebellar vermis hypoplasia, Broad hallux, Lateral ventricle dilatation, Long hallux, Enlarged c... |
ORPHA:261537 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Fetal ascites, Ischemic stroke, Portal hypertension, Joint swelling, Oligohydramnios, Brachycepha... |
OMIM:619503 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly |
OMIM:224120 |
| Norrie Disease |
|
Hypoplasia of the iris, Microcephaly, Aplasia/Hypoplasia of the cerebellum, Delayed puberty, Apla... |
ORPHA:649 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Craniosynostosis, Plagiocephaly |
ORPHA:1521 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Short stature, Microcephaly, Brachycephaly |
OMIM:610442 |
| Steinfeld Syndrome |
|
Microphthalmia |
OMIM:184705 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Plagiocephaly, Skull asymmetry, Mild postnatal growth retardation, Microcephaly, Growth delay, My... |
OMIM:150230 |
| Mowat-Wilson Syndrome |
|
Aortic valve stenosis, Cerebellar vermis hypoplasia, Enlarged cerebellum, Anterior plagiocephaly,... |
ORPHA:2152 |
| Elsahy-Waters Syndrome |
|
Phthisis bulbi, Brachycephaly |
OMIM:211380 |
| Chime Syndrome |
|
Brachycephaly |
ORPHA:3474 |
| Aspartylglucosaminuria |
|
Mitral regurgitation, Thickened calvaria, Microcephaly, Brachycephaly, Short stature |
OMIM:208400 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Cerebellar hypoplasia, Intrauterine growth retardation, Lateral ventricle dilatation |
OMIM:300896 |
| Mowat-Wilson Syndrome |
|
Microcephaly, Microphthalmia, Short stature, Patent ductus arteriosus, Pulmonic stenosis |
OMIM:235730 |
| Mckusick-Kaufman Syndrome |
|
Congenital hip dislocation, Syndactyly, Mesoaxial hand polydactyly, Postaxial hand polydactyly |
OMIM:236700 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
| Townes-Brocks Syndrome |
|
Chiari malformation, Delayed puberty, Microphthalmia, Short stature, Patent ductus arteriosus |
ORPHA:857 |
| Lowe Oculocerebrorenal Syndrome |
|
Short stature, Postnatal growth retardation, Microphthalmia |
OMIM:309000 |
| Craniofacial Microsomia 1 |
|
Chiari malformation, Occipital encephalocele, Branchial anomaly, Anophthalmia, Microphthalmia, Pa... |
OMIM:164210 |
| Bardet-Biedl Syndrome |
|
Fifth finger distal phalanx clinodactyly, Finger syndactyly, Postaxial polydactyly, Talipes equin... |
ORPHA:110 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Short stature, Plagiocephaly |
ORPHA:3042 |
| Tetraamelia Syndrome 1 |
|
Microphthalmia |
OMIM:273395 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Umbilical hernia, Intrauterine growth retardation, Microcephaly, Primary microcephaly, Short stature |
ORPHA:79351 |
| Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
| Primrose Syndrome |
|
Short stature, Brachycephaly, Delayed puberty |
OMIM:259050 |
| Microphthalmia, Syndromic 1 |
|
Microcephaly, Growth delay, Anophthalmia, Microphthalmia |
OMIM:309800 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Adducted thumb |
OMIM:601815 |
