Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis |
OMIM:617839 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro... |
OMIM:614373 |
Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis |
OMIM:612577 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Pallor of dorsal columns of the spinal cord, Amyotrophic lateral sclerosis, Axonal degeneration, ... |
OMIM:602433 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis |
OMIM:608030 |
Frontal Encephalocele |
|
Encephalocele, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Cerebral c... |
ORPHA:1931 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Megalencephaly, Ventriculomegaly, Macrocephaly, Polymicrogyria, Hydrocephalus, Postaxial hand pol... |
OMIM:615938 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:613435 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Fryns Microphthalmia Syndrome |
|
Abnormality of the vertebral column, Facial cleft, Neural tube defect |
OMIM:600776 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Rocker bottom foot, Simplified gyral pattern, Decreased thalamic volume, Hypoplasia of the brains... |
OMIM:619072 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology |
OMIM:105500 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hemimegalencephaly, Ventriculomegaly, Macrocephaly, Hydrocephalus, Polymicrogyria, Postaxial hand... |
OMIM:615937 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
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Abnormality of neuronal migration, Abnormal corpus callosum morphology, Ventriculomegaly, Ataxia,... |
OMIM:618709 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Subcortical cerebral atrophy, Hydrocephalus, Cerebellar hypoplasia, Cerebral cortical hemiatrophy... |
ORPHA:2703 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Facial cleft, Holoprosencephaly, Absent septum pellucidum, Anterior encephalocele, Scoliosis |
OMIM:601357 |
Lissencephaly 5 |
|
Subcortical band heterotopia, Cerebellar hemisphere hypoplasia, Leukoencephalopathy, Cerebellar v... |
OMIM:615191 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Plagiocephaly, Micrognathia, Midface retrusion, Brachycephaly, Ventriculomegaly, Unilambdoid syno... |
OMIM:618577 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis |
OMIM:619141 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Dysgyria, Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebral white matter morphology, Occipi... |
ORPHA:352682 |
Megalencephaly, Autosomal Dominant |
|
Macrocephaly, Hydrocephalus, Megalencephaly |
OMIM:155350 |
Pentasomy X |
|
Plagiocephaly, Micrognathia, Small hand, Patent ductus arteriosus, Short foot, Hip dysplasia, Cam... |
ORPHA:11 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology |
OMIM:602099 |
Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Degeneration of ... |
OMIM:105400 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Dysgenesis of the hippocampus, Cubitus valgus, Polymicrogyria, Cerebellar hypoplasia, Abnormality... |
ORPHA:300570 |
Neural Tube Defects, Susceptibility To |
|
Anencephaly, Myelomeningocele, Asymmetry of spinal facet joints, Absence of the sacrum, Sacral di... |
OMIM:182940 |
Congenital Hydrocephalus |
|
Abnormal cortical gyration, Optic atrophy, Small cerebral cortex, Colpocephaly, Posteriorly rotat... |
ORPHA:2185 |
Craniosynostosis 6 |
|
Dandy-Walker malformation, Plagiocephaly, Cerebellar atrophy, Brachycephaly, Craniosynostosis, Ab... |
OMIM:616602 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ventriculomegaly, Cerebellar malformation, Hydrocephalus, Occipital encephalocele, Type II lissen... |
ORPHA:324416 |
Mental Retardation, Autosomal Dominant 13 |
|
Plagiocephaly, Small hand, Pachygyria, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypopl... |
OMIM:614563 |
Periventricular Nodular Heterotopia 7 |
|
Optic atrophy, Micrognathia, Cleft palate, Periventricular nodular heterotopia, Hearing impairmen... |
OMIM:617201 |
Chudley-Mccullough Syndrome |
|
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Severe sensorineural hearing... |
OMIM:604213 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Cerebral cortical atrophy |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Cerebral cortical atrophy |
OMIM:616437 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Dandy-Walker malformation, Micrognathia, Frontal bossing, Orbital craniosynostosis, Hydrocephalus... |
ORPHA:1538 |
Spinal Muscular Atrophy, Type Iv |
|
Degeneration of anterior horn cells |
OMIM:271150 |
Craniotelencephalic Dysplasia |
|
Frontal encephalocele, Arrhinencephaly, Septo-optic dysplasia, Hydrocephalus, Cerebellar hypoplas... |
ORPHA:1528 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis |
OMIM:615426 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis |
OMIM:614808 |
Alkuraya-Kucinskas Syndrome |
|
Plagiocephaly, Adducted thumb, Talipes equinovarus, Hand clenching, Cerebellar dysplasia, Ventric... |
OMIM:617822 |
Mental Retardation, Autosomal Dominant 36 |
|
Plagiocephaly, Deviation of the 5th finger, Ventriculomegaly, Hydrocephalus, Broad hallux, Promin... |
OMIM:616362 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Optic atrophy, Retinal dysplasia, Hypoplasia of the pons, Ventriculome... |
OMIM:613154 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Flat occiput, Brachycephaly, Diffuse cerebral atrophy, Microcephaly |
ORPHA:2898 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Plagiocephaly, Brachycephaly, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Hydroc... |
ORPHA:272 |
Achondroplasia |
|
Genu varum, Megalencephaly, Bowing of the legs, Rhizomelia, Frontal bossing, Flared metaphysis, H... |
OMIM:100800 |
Developmental And Epileptic Encephalopathy 65 |
|
Plagiocephaly, Cerebellar atrophy, Ventriculomegaly, Cerebral atrophy, Microcephaly |
OMIM:618008 |
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
Plagiocephaly, Ventriculomegaly, Hypoplasia of the brainstem, Macrocephaly, Hypoplasia of the cor... |
OMIM:618354 |
Sporadic Fetal Brain Disruption Sequence |
|
Microcephaly, Prominent occiput, Plagiocephaly, Cerebral cortical atrophy |
ORPHA:1665 |
Coasy Protein-Associated Neurodegeneration |
|
Abnormal corpus striatum morphology, Abnormal globus pallidus morphology, Abnormal caudate nucleu... |
ORPHA:397725 |
Band Heterotopia |
|
Subcortical band heterotopia, Ventriculomegaly, Hydrocephalus, Polymicrogyria, Gray matter hetero... |
OMIM:600348 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Abnormality of neuronal migration, Schizencephaly, Abnormal corpus callosum morphology, Simplifie... |
OMIM:604317 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume, Hypoplasia of the olfactory bulb, Abnormality of the basal ganglia |
OMIM:618646 |
6Q25 Microdeletion Syndrome |
|
Plagiocephaly, Micrognathia, Rocker bottom foot, Ventriculomegaly, Camptodactyly of finger, Clino... |
ORPHA:251056 |
Oculocerebrocutaneous Syndrome |
|
Dandy-Walker malformation, Facial cleft, Wide mouth, Congenital hip dislocation, Finger syndactyl... |
ORPHA:1647 |
Rhombencephalosynapsis |
|
Microretrognathia, Polydactyly, Septo-optic dysplasia, Agenesis of cerebellar vermis, Short phala... |
ORPHA:59315 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Plagiocephaly, Macrocephaly, Agenesis of corpus callosum, Chiari type I malformation |
ORPHA:459074 |
Spinal Muscular Atrophy, Type Ii |
|
Degeneration of anterior horn cells |
OMIM:253550 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Joint contracture of the hand, Hydrocephalus, Broad hallux, Delayed cranial... |
OMIM:175700 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
3P25.3 Microdeletion Syndrome |
|
Micrognathia, Postaxial polydactyly, Tapered finger, Cerebral white matter atrophy, Brachycephaly... |
ORPHA:435638 |
Oculomaxillofacial Dysostosis |
|
Micrognathia, Abnormality of the humerus, Facial cleft, Adducted thumb, Upslanted palpebral fissu... |
ORPHA:1794 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Plagiocephaly, Tapered finger, Brachycephaly, Mandibular prognathia, Small hand, Thick corpus cal... |
OMIM:618672 |
Lissencephaly 1 |
|
Subcortical band heterotopia, Ventriculomegaly, Pachygyria, Agyria, Abnormal cerebral white matte... |
OMIM:607432 |
Craniofrontonasal Dysplasia |
|
Plagiocephaly, Broad hallux phalanx, Brachycephaly, Craniosynostosis, Congenital pseudoarthrosis ... |
ORPHA:1520 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells |
ORPHA:65684 |
Septopreoptic Holoprosencephaly |
|
Perisylvian polymicrogyria, Megalencephaly, Abnormal vertebral morphology, Hypoplasia of the pons... |
ORPHA:280195 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Plagiocephaly, Cerebellar dysplasia, Acromesomelia, Ventriculomegaly, Short 5th finger, Patent du... |
ORPHA:500159 |
Dandy-Walker Syndrome |
|
Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, Dilated fourth ventricle, Po... |
OMIM:220200 |
Nevus Comedonicus Syndrome |
|
Abnormal vertebral morphology, Spina bifida, Spina bifida occulta, Scoliosis, Microcephaly |
ORPHA:64754 |
Synpolydactyly 1 |
|
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... |
OMIM:186000 |
Muenke Syndrome |
|
Plagiocephaly, Short middle phalanx of finger, Midface retrusion, Capitate-hamate fusion, Brachyc... |
OMIM:602849 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Absent hippocampal commissure, Abnormality of the anterior commissure, Hypoplasia of the pons, Hy... |
OMIM:617542 |
Craniotelencephalic Dysplasia |
|
Frontal encephalocele, Arrhinencephaly, Absent septum pellucidum, Cerebellar hypoplasia, Lissence... |
OMIM:218670 |
Dandy-Walker Malformation With Occipital Cephalocele, Autosomal Dominant |
|
Dandy-Walker malformation, Atretic occipital cephalocele |
OMIM:609222 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Plagiocephaly, Abnormal globus pallidus morphology, Brachycephaly, Ventriculomegaly, Hypoplasia o... |
OMIM:618603 |
Microlissencephaly |
|
Cerebral dysmyelination, Periventricular heterotopia, Simplified gyral pattern, Ventriculomegaly,... |
ORPHA:1083 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Plagiocephaly, Cerebellar atrophy, Talipes equinovarus, Microcephaly, Abnormal cerebral white mat... |
OMIM:617481 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Dandy-Walker malformation, Dilation of lateral ventricles, Spina bifida occulta, Scoliosis, Agene... |
OMIM:618736 |
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Tethered cord, Hypoplasia of the corpus callosum, Spina bifida occulta, Leukoencephalopathy |
OMIM:615281 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Micrognathia, Hydranencephaly, Abnormality of the diencephalon, Adducted thumb, Holoprosencephaly... |
ORPHA:2570 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Abnormal sacrum morphology, Wide nasal bridge, Hyperlordosis, Scoliosis, Anteverted nares, Short ... |
ORPHA:1797 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... |
ORPHA:1646 |
Isolated Dandy-Walker Malformation |
|
Dandy-Walker malformation, Encephalocele, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:217 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Umbilical hernia, Broad thumb, Craniosynostosis, Finger syn... |
ORPHA:380 |
Anophthalmia Plus Syndrome |
|
Facial cleft, Spina bifida, Vertebral segmentation defect |
ORPHA:1104 |
Distal 7Q11.23 Microduplication Syndrome |
|
Frontal encephalocele, Chiari malformation, Hydrocephalus |
ORPHA:261102 |
Holoprosencephaly 5 |
|
High palate, Depressed nasal bridge, Lobar holoprosencephaly, Holoprosencephaly, Macrotia, Deep p... |
OMIM:609637 |
Alexander Disease |
|
Ataxia, Hydrocephalus, Increased CSF protein |
OMIM:203450 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Plagiocephaly, Colpocephaly, Polymicrogyria, Cerebellar hypoplasia, Midface retrusion, Microcephaly |
OMIM:618731 |
Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Hydrocephalus, Wide nasal bridge |
OMIM:209970 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Plagiocephaly, Brachycephaly, Ventriculomegaly, Alobar holoprosencephaly, Dolichocephaly, Agenesi... |
OMIM:615433 |
Pineocytoma |
|
Hydrocephalus, Difficulty walking, Increased CSF protein, Episodic ataxia |
ORPHA:251912 |
Summitt Syndrome |
|
Plagiocephaly, Craniosynostosis, Finger syndactyly, Genu valgum, Macrocephaly, Camptodactyly of f... |
ORPHA:3210 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Abnormal lower motor neur... |
OMIM:105550 |
Bresek Syndrome |
|
Plagiocephaly, Optic nerve hypoplasia, Neonatal death, Hydrocephalus, Postaxial hand polydactyly,... |
ORPHA:85284 |
Isochromosomy Yp |
|
Ambiguous genitalia, Decreased testicular size, Male infertility, Azoospermia |
ORPHA:98797 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Basal ganglia calcification, Thalamic calcification, Cerebellar calcifications |
OMIM:618824 |
Oculocerebrodental Syndrome |
|
Metaphyseal dysplasia, Dysplastic corpus callosum, Short 5th finger, Focal white matter lesions, ... |
ORPHA:557003 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Microphthalmia, Hypoplasia of the pons, Lissencephaly, Ventriculomegal... |
OMIM:613153 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dandy-Walker malformation, Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, D... |
OMIM:220220 |
Syndactyly Type 2 |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... |
ORPHA:93403 |
Craniofacial Conodysplasia |
|
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand |
ORPHA:85168 |
Developmental And Epileptic Encephalopathy 49 |
|
Dandy-Walker malformation, Prominent nose, Optic atrophy, Short philtrum, Macrotia, Thick upper l... |
OMIM:617281 |
Spinal Muscular Atrophy, Type Iii |
|
Degeneration of anterior horn cells |
OMIM:253400 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro... |
OMIM:205100 |
Atypical Teratoid Rhabdoid Tumor |
|
Macrocephaly, Hydrocephalus, Cerebral calcification |
ORPHA:99966 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Plagiocephaly, Hypoplasia of the corpus callosum, Ventriculomegaly |
ORPHA:521390 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Caudate atrophy, Leukoencephalopathy, Basal ganglia calcification, T2 hypointense thalamus, Hypop... |
OMIM:618193 |
Developmental And Epileptic Encephalopathy 36 |
|
Optic atrophy, Hydrocephalus, Flexion contracture, Cerebral atrophy, Microcephaly |
OMIM:300884 |
Frontotemporal Dementia |
|
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis |
OMIM:600274 |
Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... |
OMIM:174500 |
Isochromosomy Yq |
|
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... |
ORPHA:98798 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis, Cerebral cortical atrophy |
OMIM:615911 |
Lissencephaly 3 |
|
Ventriculomegaly, Ataxia, Pachygyria, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, ... |
OMIM:611603 |
Carey-Fineman-Ziter Syndrome |
|
Plagiocephaly, Micrognathia, Talipes equinovarus, Tapered finger, Pectoralis hypoplasia, Ventricu... |
OMIM:254940 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Decreased testicular size, Non-obstructive a... |
OMIM:619528 |
Craniofacial Dyssynostosis |
|
Micrognathia, Craniosynostosis, Patent ductus arteriosus, Frontal bossing, Macrocephaly, Hydrocep... |
ORPHA:1516 |
Brain Small Vessel Disease 3 |
|
Cerebral hemorrhage, Cerebral atrophy, Leukoencephalopathy, Cerebral calcification |
OMIM:618360 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Ventriculomegaly, Pachygyria, Agyria, Gray matter heterotopia, Enlarged sylvian cistern |
ORPHA:1084 |
Lissencephaly 8 |
|
Ventriculomegaly, Hypoplasia of the corpus callosum, Polymicrogyria, Occipital encephalocele, Lis... |
OMIM:617255 |
Fried Syndrome |
|
Gait disturbance, Abnormality of the optic nerve, High palate, Short philtrum, Macrotia, Hearing ... |
ORPHA:85335 |
Nail-Patella Syndrome |
|
Cleft palate, Talipes equinovarus, Lester's sign, Elongated radius, Limited elbow extension, Bice... |
OMIM:161200 |
Acalvaria |
|
Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Spina bifida, Hydrocephalus |
ORPHA:945 |
Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Sparse eyelashes, Facial cleft, Ptosis, Epicanthus, Sparse eyebrow, Pericallosal lipoma, Brachyda... |
ORPHA:306542 |
Subependymal Nodular Heterotopia |
|
Meningocele, Partial agenesis of the corpus callosum, Myelomeningocele, Nasofrontal encephalocele... |
ORPHA:101030 |
Oculoauricular Syndrome |
|
Morning glory anomaly, Retinal coloboma, Rod-cone dystrophy, Iris coloboma, Macular hypoplasia, P... |
OMIM:612109 |
Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Plagiocephaly, Micrognathia, Ventriculomegaly, Cerebellar hypoplasia, Prominent metopic ridge, Cl... |
OMIM:619188 |
Craniodigital-Intellectual Disability Syndrome |
|
Short nose, Spina bifida occulta, Narrow nasal bridge |
ORPHA:1514 |
Masa Syndrome |
|
Adducted thumb, Talipes equinovarus, Ventriculomegaly, Macrocephaly, Hydrocephalus, Agenesis of c... |
OMIM:303350 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Pachygyria, Hypoplasia of the corpus callosum, Agyria, Gray matter ... |
OMIM:615411 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size |
OMIM:229070 |
Acrofacial Dysostosis, Catania Type |
|
Spina bifida occulta, Microcephaly |
OMIM:101805 |
Lissencephaly, X-Linked, 1 |
|
Death in infancy, Ataxia, Micropenis, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly,... |
OMIM:300067 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cerebellar cyst, Diffuse white matter abnormalities, Agenesis of corpus callosum, Dilated fourth ... |
ORPHA:370959 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
High, narrow palate, Hydrocephalus, Hypergonadotropic hypogonadism, Azoospermia |
ORPHA:2183 |
Spondylosis, Cervical |
|
Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis |
OMIM:184300 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Plagiocephaly, Tapered finger, Syndactyly, Macrocephaly, Clinodactyly of the 5th finger |
OMIM:618725 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Agenesis of cerebellar vermis |
OMIM:213010 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Toe syndactyly, Reduced proximal interphalangeal joint space, Symphalangism of the 5th finger, Ab... |
ORPHA:3246 |
Distal Monosomy 13Q |
|
Anencephaly, Holoprosencephaly, Encephalocele, Abnormal form of the vertebral bodies, Aplasia/Hyp... |
ORPHA:1590 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Simplified gyral pattern, Hyperactivity, Periventricular white matter hyperintensi... |
OMIM:619470 |
Malan Overgrowth Syndrome |
|
Plagiocephaly, Ventriculomegaly, Frontal bossing, Scaphocephaly, Hypoplasia of the brainstem, Sle... |
ORPHA:420179 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Plagiocephaly, Tapered finger, Small hand, Sandal gap, Short foot, Clinodactyly, Microcephaly |
OMIM:618089 |
Pettigrew Syndrome |
|
Dandy-Walker malformation, Prominent nose, High-frequency hearing impairment, Wide mouth, Cerebra... |
OMIM:304340 |
Leptin Receptor Deficiency |
|
Abnormal hypothalamus morphology, Decreased response to growth hormone stimulation test, Pituitar... |
OMIM:614963 |
Oculofaciocardiodental Syndrome |
|
2-3 toe syndactyly, Cleft palate, Oligodontia, Cubitus valgus, Delayed eruption of teeth, Iris co... |
ORPHA:2712 |
Methanol Poisoning |
|
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Abnormal globus pallidus morphology, ... |
ORPHA:31825 |
Kleefstra Syndrome Due To A Point Mutation |
|
Plagiocephaly, Tapered finger, Brachycephaly, Ventriculomegaly, Cerebellar hypoplasia, Abnormal c... |
ORPHA:261652 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Thoracolumbar scoliosis, Spina bifida occulta, Hydrocephalus, Myelomeningocele |
OMIM:183802 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Toe syndactyly, Micrognathia, Chiari malformation, Large fontanelles, Brachycephaly, Bowing of th... |
ORPHA:171839 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Wide mouth, Micropenis, Bilateral cryptorchidism, Polymicrogyria, Anteverted nares, Dilation of l... |
OMIM:300982 |
Coffin-Siris Syndrome 6 |
|
Plagiocephaly, Micrognathia, Wormian bones, Frontal bossing, Periventricular leukomalacia, Retrog... |
OMIM:617808 |
Meckel Syndrome, Type 4 |
|
Meningocele, Dandy-Walker malformation, Anencephaly, Agenesis of cerebellar vermis, Encephalocele... |
OMIM:611134 |
47,Xyy Syndrome |
|
Hypospadias, Oligospermia, Macroorchidism, Congenital stationary night blindness, Azoospermia, In... |
ORPHA:8 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Leukoencephalopathy, Abnormality of thalamus morphology |
OMIM:613724 |
Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Facial cleft, Hypoplasia of the zygomatic bone, Small hand, Downslanted palpebral ... |
ORPHA:1786 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Anterior encephalocele, Hydrocephalus |
OMIM:614195 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Dandy-Walker malformation, Anencephaly, Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasia, O... |
OMIM:615287 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Micrognathia, Talipes equinovarus, Hand clenching, Congenital hip dislocation, Ventriculomegaly, ... |
OMIM:618291 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Duplication Of The Pituitary Gland |
|
Brachyturricephaly, Abnormal hypothalamus morphology, Supernumerary tooth, Abnormality of the pit... |
ORPHA:314621 |
Young Syndrome |
|
Obstructive azoospermia, Recurrent bronchitis, Decreased fertility |
ORPHA:3471 |
Temple Syndrome |
|
Micrognathia, Cleft palate, High palate, Short philtrum, Depressed nasal bridge, Wide nose, Bifid... |
OMIM:616222 |
Muenke Syndrome |
|
Tarsal synostosis, Plagiocephaly, Cone-shaped epiphysis, Brachycephaly, Carpal synostosis, Short ... |
ORPHA:53271 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Cerebral hemorrhage, Hypertension, Moyamoya phenomenon, Azoospermia, Flar... |
ORPHA:280679 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Dilated cardiomyopathy, Cerebral hemorrhage, Moyamoya phenomenon, Azoospermia, Abnormal cerebral ... |
OMIM:300845 |
Thanatophoric Dysplasia Type 2 |
|
Holoprosencephaly, Encephalocele, Platyspondyly, Kyphosis, Ventriculomegaly, Hydrocephalus |
ORPHA:93274 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Plagiocephaly, Brachycephaly, Holoprosencephaly, Craniosynostosis, Microcephaly, Short distal pha... |
ORPHA:2163 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Retinal dysplasia, Ventriculomegaly, Hydrocephalus, Type II lissencephaly |
OMIM:614830 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Leukoencephalopathy, Recurrent subcor... |
ORPHA:136 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Cerebral hemorrhage, Subdural hemorrhage, Vasospasm, Leukoencephalopathy, Intraventricular hemorr... |
ORPHA:284388 |
16P13.2 Microdeletion Syndrome |
|
Dilated third ventricle, Plagiocephaly, Brachycephaly, Cerebral white matter atrophy, Small hand,... |
ORPHA:500055 |
Raine Syndrome |
|
Plagiocephaly, Brachyturricephaly, Micrognathia, Large fontanelles, Brachycephaly, Mandibular pro... |
OMIM:259775 |
Walker-Warburg Syndrome |
|
Abnormality of neuronal migration, Cleft palate, Retinal dysplasia, Iris coloboma, Polymicrogyria... |
ORPHA:899 |
Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly, Microcephaly |
ORPHA:63862 |
Acrodysplasia Scoliosis |
|
Spina bifida occulta, Vertebral segmentation defect, Scoliosis |
ORPHA:2956 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hearing impairment, Periodontitis, Gingivitis, Hydrocephalus, Abnormality of the dentition |
ORPHA:1008 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
2-3 toe syndactyly, Micrognathia, Postaxial polydactyly, Brachycephaly, Broad distal phalanx of f... |
ORPHA:404440 |
Kleefstra Syndrome 2 |
|
Plagiocephaly, Midface retrusion, Microcephaly |
OMIM:617768 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly, Microcephaly |
OMIM:271109 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Optic atrophy, Colpocephaly, Posteriorly rotated ears, Simplified gy... |
OMIM:615219 |
Hydrolethalus Syndrome 2 |
|
Micrognathia, Cleft palate, Anencephaly, Postaxial polydactyly, Preaxial polydactyly, Ventriculom... |
OMIM:614120 |
Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Subcortical band heterotopia, Pachygyria, Agyria, Gray matter heterotopia, Cortical dysplasia, Mi... |
OMIM:615412 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Rhizomelia, Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Kleeblattschaedel |
|
Recurrent corneal erosions, Craniosynostosis, Elbow ankylosis, Hydrocephalus |
OMIM:148800 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Abnormality of the odontoid process, Vertebral fusion, Myelomeningocele, Hemivertebrae, Block ver... |
OMIM:613686 |
Caudal Duplication |
|
Myelomeningocele, Abnormal sacrum morphology, Spinal cord lesion, Bifid sacrum, Spina bifida, Ver... |
ORPHA:1756 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Lens subluxation, Microphakia, Arachnodactyly, Retinal detac... |
ORPHA:171844 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Sacrococcygeal pilonidal abnormality, Spina bifida occulta, Depressed nasal bridge |
ORPHA:2840 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Plagiocephaly, Tapered finger, Brachycephaly, Global brain atrophy, Frontal bossing, Cerebral atr... |
OMIM:616801 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Cleft palate, Bifid uvula, Bicornuate uterus, Hydrocephalus |
OMIM:258320 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Schizencephaly, Dysgenesis of the basal ganglia, Abnormal caudate nuc... |
ORPHA:300573 |
Dystonia 30 |
|
Hypothalamic hamartoma, Globus pallidus hypointensity on susceptibility-weighted imaging, Diffuse... |
OMIM:619291 |
Gluteal Muscles, Absence Of |
|
Spina bifida occulta, Scoliosis |
OMIM:231970 |
Fg Syndrome Type 1 |
|
Plagiocephaly, Micrognathia, Optic nerve hypoplasia, Broad toe, Craniosynostosis, Ventriculomegal... |
ORPHA:93932 |
Deafness-Infertility Syndrome |
|
Sensorineural hearing impairment, Male infertility, Azoospermia |
ORPHA:94064 |
Mosaic Trisomy 9 |
|
Cleft palate, Talipes equinovarus, Patent ductus arteriosus, Camptodactyly of finger, Finger clin... |
ORPHA:99776 |
Temtamy Syndrome |
|
Micrognathia, Chorioretinal coloboma, Short 2nd toe, Talipes equinovarus, Long philtrum, Ectopia ... |
OMIM:218340 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:612069 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Anencephaly, Holoprosencephaly, Encephalocele, Aplasia/Hypoplasia of the cerebellum,... |
ORPHA:1908 |
Meckel Syndrome, Type 2 |
|
Meningocele, Encephalocele, Dandy-Walker malformation, Anencephaly |
OMIM:603194 |
Acropectorovertebral Dysplasia |
|
Abnormal vertebral morphology, Spina bifida occulta at S1, Spina bifida occulta at L5 |
OMIM:102510 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Plagiocephaly, Talipes equinovarus, Tapered finger, Hypoplasia of the pons, Patent ductus arterio... |
OMIM:619293 |
Microspherophakia-Metaphyseal Dysplasia |
|
Irregular epiphyses, Metaphyseal dysplasia, Lens coloboma, Lens subluxation, Microspherophakia, R... |
OMIM:157151 |
Sprengel Deformity |
|
Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae |
OMIM:184400 |
48,Xxyy Syndrome |
|
Carious teeth, Thick lower lip vermilion, Infertility, Cleft palate, Open bite, Azoospermia, Broa... |
ORPHA:10 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal dysplasia, Peters anomaly, Polymicrogyria, Agyria, Hydrocephalus, Remnants of the hyaloid... |
OMIM:614643 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Plagiocephaly, Micrognathia, Hyperextensibility of the finger joints, Rhizomelia, Clinodactyly of... |
OMIM:618821 |
Cebalid Syndrome |
|
Plagiocephaly, Brachycephaly, Platystencephaly, Polymicrogyria, Turricephaly, Midface retrusion, ... |
OMIM:618774 |
Hydrocephalus, Autosomal Dominant |
|
Dandy-Walker malformation, Cerebellar vermis hypoplasia, Sagittal craniosynostosis, Hydrocephalus |
OMIM:123155 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Kniest Dysplasia |
|
Rhegmatogenous retinal detachment, Cleft palate, Pierre-Robin sequence, Abnormal bone structure, ... |
ORPHA:485 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis |
OMIM:619132 |
Mycophenolate Mofetil Embryopathy |
|
Micrognathia, Chorioretinal coloboma, Microphthalmia, Facial cleft, Iris coloboma, Foot polydacty... |
ORPHA:268249 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion, Cerebral atrophy |
OMIM:619057 |
Microcephaly, Seizures, And Developmental Delay |
|
Simplified gyral pattern, Ventriculomegaly, Hyperactivity, Progressive microcephaly, Ataxia, Hypo... |
OMIM:613402 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Stroke, Spina bifida occulta, Arrhythmia, Bruising susceptibility |
ORPHA:230839 |
Amyotrophic Lateral Sclerosis 8 |
|
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis |
OMIM:608627 |
Methylmalonic Acidemia With Homocystinuria |
|
Gait disturbance, Hydrocephalus, Retinopathy, Microcephaly, Lethargy |
ORPHA:26 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Micrognathia, Cleft palate, Broad long bones, Adducted thumb, Ectopia lentis, Metaphyseal widenin... |
OMIM:224400 |
Spermatogenic Failure 25 |
|
Azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Spindle-shaped finger, Delayed epiphyseal ossification, Genu valgum, Frontal bossing, Macrocephal... |
ORPHA:166024 |
Dural Sinus Malformation |
|
Cerebral hemorrhage, Hypoplasia of the frontal lobes, Intracranial hemorrhage, Myelopathy, Subdur... |
ORPHA:97339 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Gait disturbance, Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Rhizomelic Chondrodysplasia Punctata |
|
Spina bifida occulta, Scoliosis, Microcephaly |
ORPHA:177 |
Hartsfield Syndrome |
|
Encephalocele, Aplasia/Hypoplasia of the corpus callosum, Lobar holoprosencephaly |
ORPHA:2117 |
Dihydropyrimidinase Deficiency |
|
Plagiocephaly, Short phalanx of finger, Talipes equinovarus, Abnormal cerebral white matter morph... |
OMIM:222748 |
Holoprosencephaly 7 |
|
Flat occiput, Parietal bossing, Frontal bossing, Hypoplasia of the premaxilla, Macrocephaly, Panh... |
OMIM:610828 |
Acrofacial Dysostosis, Weyers Type |
|
Facial cleft, Small hand, Advanced eruption of teeth, Overlapping fingers, Postaxial hand polydac... |
ORPHA:952 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Micrognathia, Cleft palate, 2-3 toe syndactyly, Facial cleft, Cleft upper lip, Short 5th finger, ... |
OMIM:239800 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Depressed nasal bridge, Gait imbalance, Wide nose, Hypoplasia of the corpus callosum, Thin upper ... |
ORPHA:488635 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Plagiocephaly, Flat occiput, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Cavu... |
OMIM:619383 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Synophrys, Epicanthus, Finger syndactyly, Thick eyebrow, Clinodactyly o... |
ORPHA:3268 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Lissencephaly, Ventriculomegaly, Periventricular ribbonlike heterotopia, Thick cerebral cortex, H... |
OMIM:618677 |
New-Onset Refractory Status Epilepticus |
|
Cerebellar edema, Global brain atrophy, Focal T2 hyperintense basal ganglia lesion, Abnormal thal... |
ORPHA:363558 |
Gómez-López-Hernández Syndrome |
|
Brachycephaly, Cerebellar vermis hypoplasia, Hydrocephalus, Turricephaly, Midface retrusion, Abno... |
ORPHA:1532 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Meningocele, Abnormal intervertebral disk morphology, Depressed nasal bridge, Abnormal form of th... |
ORPHA:2311 |
Mental Retardation, Autosomal Dominant 58 |
|
Plagiocephaly, Microcephaly |
OMIM:618106 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Plagiocephaly, Micrognathia, Microcephaly |
ORPHA:77300 |
1Q21.1 Microduplication Syndrome |
|
Hypospadias, Attention deficit hyperactivity disorder, Hydrocephalus, Cryptorchidism |
ORPHA:250994 |
Neuronal Intranuclear Inclusion Disease |
|
Abnormal form of the vertebral bodies, Spina bifida occulta, Scoliosis |
ORPHA:2289 |
Pallister-Hall-Like Syndrome |
|
Micrognathia, Death in infancy, Hypothalamic hamartoma, Hip dislocation, Macrocephaly, Hydrocepha... |
OMIM:241800 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Cleft palate, Reduced bone mineral density, Cleft lip, Syndactyly, Abn... |
ORPHA:1505 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Smooth philtrum, Microphthalmia, Polydactyly, Megalencephaly, Ventriculomegaly, Cavum septum pell... |
OMIM:602501 |
Acrofacial Dysostosis, Palagonia Type |
|
Hypoplasia of the odontoid process, Spina bifida occulta at S1, Scoliosis, Abnormal vertebral mor... |
OMIM:601829 |
Williams-Beuren Region Duplication Syndrome |
|
Gait disturbance, Micrognathia, High palate, Diastema, Short philtrum, Broad nasal tip, Overfolde... |
OMIM:609757 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Thin corpus callosum, Hydrocephalus, Cerebellar hypoplasia, Plagiocephaly, Partial agenesis of th... |
OMIM:619512 |
Central Neurocytoma |
|
Ataxia, Hydrocephalus, Abnormal lateral ventricle morphology, Cerebral calcification, Tinnitus, L... |
ORPHA:73256 |
Motor Neuron Disease With Dementia And Ophthalmoplegia |
|
Degeneration of anterior horn cells, Cerebral atrophy |
OMIM:600333 |
Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Acrocephalopolysyndactyly Type Iv |
|
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Oxycephaly,... |
OMIM:201020 |
Intellectual Developmental Disorder, X-Linked 30 |
|
High palate, Short nose, Thick upper lip vermilion, Drooling, Macrotia, Prominent nasal bridge, H... |
OMIM:300558 |
Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Encephalocele, Microcephaly |
OMIM:200130 |
Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, Short 5th finger, 4-5 finger syndactyly |
OMIM:186100 |
Cerebral Cavernous Malformations |
|
Cerebral cavernous malformation, Intracranial hemorrhage, Cerebral calcification |
OMIM:116860 |
Cach Syndrome |
|
Progressive macrocephaly, Abnormal pons morphology, Cerebellar atrophy, Dysgyria, Cerebellar verm... |
ORPHA:135 |
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Plagiocephaly, Temporal cortical atrophy, Brachycephaly, Prominent metopic ridge, Hypoplasia of t... |
OMIM:618862 |
Frontofacionasal Dysplasia |
|
Limbal dermoid, Cleft palate, Microphthalmia, Facial cleft, Brushfield spots, Iris coloboma, Non-... |
ORPHA:1791 |
Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Hydrocephalus, Iris coloboma |
OMIM:210350 |
Congenital Factor Xiii Deficiency |
|
Recurrent spontaneous abortion, Cerebral hemorrhage, Menorrhagia, Ecchymosis, Gingival bleeding, ... |
ORPHA:331 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Microcephaly, Azoospermia |
OMIM:241000 |
Joubert Syndrome 9 |
|
Encephalocele, Scoliosis, Ventriculomegaly |
OMIM:612285 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
High palate, Depressed nasal bridge, Mandibular prognathia, Wide nasal bridge, Enamel hypoplasia,... |
OMIM:600991 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Hypoplasia of the pons, Optic nerve hypoplasia, Leukoencephalopathy, Retinal deta... |
OMIM:615181 |
Ritscher-Schinzel Syndrome 4 |
|
Dandy-Walker malformation, Plagiocephaly, Premature anterior fontanel closure, Dysgenesis of the ... |
OMIM:619435 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Micrognathia, Lens coloboma, 2-3 toe syndactyly, Microphthalmia, Umbilical hernia, Mandibular pro... |
OMIM:618914 |
Spermatogenic Failure 8 |
|
Oligospermia, Azoospermia, Cryptozoospermia |
OMIM:613957 |
Iniencephaly |
|
Dandy-Walker malformation, Anencephaly, Myelomeningocele, Holoprosencephaly, Encephalocele, Syrin... |
ORPHA:63259 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Plagiocephaly, Micrognathia, Patent ductus arteriosus, Hypoplasia of the corpus callosum, Microce... |
OMIM:613457 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... |
ORPHA:399805 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Meckel diverticulum, Chorioretinal coloboma, Posteriorly rotated ears, Hydrocephalus, Dilation of... |
OMIM:300864 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Abnormal sacrum morphology, Abnormal vertebral segmentation ... |
ORPHA:2345 |
Isotretinoin Syndrome |
|
Sacral dimple, Spina bifida occulta, Depressed nasal bridge |
ORPHA:2305 |
Triopia |
|
Cleft palate, Iris coloboma, Abnormal pupil morphology, Midline facial cleft, Microcornea, Median... |
ORPHA:3374 |
Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... |
ORPHA:261529 |
Ring Chromosome 21 Syndrome |
|
Gait disturbance, Infertility, Amenorrhea, Azoospermia, Holoprosencephaly, Microcephaly |
ORPHA:1445 |
Sub-Cortical Nodular Heterotopia |
|
Abnormality of neuronal migration, Abnormal cerebral cortex morphology, Polymicrogyria, Subcortic... |
ORPHA:101029 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:619133 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:300857 |
Isolated Plagiocephaly |
|
Plagiocephaly, Midface retrusion, Macrocephaly, Frontal bossing |
ORPHA:35098 |
Pelvis-Shoulder Dysplasia |
|
Cleft palate, Talipes equinovarus, Retinal coloboma, Prominent protruding coccyx, Microglossia, F... |
ORPHA:2839 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Sacral dimple, Anencephaly |
OMIM:614175 |
Hypertelorism And Tetralogy Of Fallot |
|
Spina bifida occulta, Depressed nasal bridge |
OMIM:239711 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens, Long philtrum, Osteoporosis, Thin vermilion borde... |
ORPHA:85194 |
Mental Retardation, Autosomal Dominant 48 |
|
Hypospadias, Dilated fourth ventricle, Abnormality of the pinna, Prominent nasal bridge, Sensorin... |
OMIM:617751 |
Mental Retardation, Buenos Aires Type |
|
Carious teeth, Hypospadias, Prominent nose, High palate, Partial agenesis of the corpus callosum,... |
OMIM:249630 |
Noonan Syndrome 13 |
|
Plagiocephaly, Metatarsus adductus, Micrognathia, Tapered finger, Cubitus valgus, Overlapping toe... |
OMIM:619087 |
Edinburgh Malformation Syndrome |
|
Abnormality of neuronal migration, Micrognathia, Ulnar deviation of finger, Long fingers, Thin ve... |
ORPHA:1895 |
Familial Scaphocephaly Syndrome, Mcgillivray Type |
|
Toe syndactyly, Broad hallux phalanx, Trigonocephaly, Mandibular prognathia, Ventriculomegaly, Ma... |
ORPHA:168624 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Pachygyria, Wide nasal bridge |
OMIM:614870 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Mend Syndrome |
|
Dandy-Walker malformation, 2-3 toe syndactyly, High palate, Polydactyly, Long fingers, Overlappin... |
OMIM:300960 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypospadias, Thick lower lip vermilion, Depressed nasal bridge, Wide mouth, Mandibular prognathia... |
OMIM:300354 |
Aminopterin Syndrome Sine Aminopterin |
|
Micrognathia, Megalencephaly, Umbilical hernia, Brachycephaly, Joint contracture of the hand, Ara... |
OMIM:600325 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... |
ORPHA:90065 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Plagiocephaly, Micrognathia, Rocker bottom foot, Wrist flexion contracture, Hip dislocation, Scap... |
ORPHA:1143 |
Amish Lethal Microcephaly |
|
Death in infancy, Ventriculomegaly, Spina bifida, Lissencephaly, Agenesis of corpus callosum, Mic... |
ORPHA:99742 |
Pontocerebellar Hypoplasia, Type 15 |
|
Dystonia, Partial agenesis of the corpus callosum, Death in infancy, Simplified gyral pattern, Hy... |
OMIM:619302 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Dilated third ventricle, Partial agenesis of the corpus callosum, Plagiocephaly, Brachycephaly, F... |
OMIM:617296 |
Alg13-Cdg |
|
Anteverted nares, Abnormal lateral ventricle morphology, Long philtrum |
ORPHA:324422 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Depressed nasal bridge, Megalencephaly, Narrow mouth, Hydrocephalus, Polymicrogyria, Abnormal nas... |
ORPHA:83473 |
Dk Phocomelia Syndrome |
|
Encephalocele |
OMIM:223340 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Plagiocephaly, Midface retrusion, Congenital hip dislocation, Abnormal corpus callosum morphology... |
ORPHA:457279 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Periventricular nodular heterotopia, Optic atrophy, Inability to walk, Microcephaly |
OMIM:618572 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hypoplasia of the corpus callosum, Spina bifida occulta |
OMIM:618060 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cerebellar cyst, Partial absence of cerebellar vermis, Cerebellar dysplasia, Encephalocele, Ventr... |
OMIM:613150 |
Craniofacial Dyssynostosis With Short Stature |
|
Brachyturricephaly, Abnormal shape of the occiput, Brachycephaly, Patent ductus arteriosus, Ventr... |
OMIM:218350 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Short nose, Pulmonic stenosis, Spondylolisthesis, Anteverted nares, Spina bifida occulta, Paroxys... |
OMIM:617877 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Plagiocephaly, Micrognathia, Talipes equinovarus, Elbow flexion contracture, Small hand, Arachnod... |
ORPHA:371364 |
Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia, Attention deficit hyperactivity disorder, Microcephaly |
OMIM:618185 |
Metatropic Dysplasia |
|
Cleft palate, Abnormal cortical bone morphology, Abnormality of the metaphysis, Coarse metaphysea... |
ORPHA:2635 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology |
OMIM:613954 |
Familial Cervical Artery Dissection |
|
Hypertension, Recurrent cerebral hemorrhage, Cerebral ischemia, Stroke, Transient ischemic attack... |
ORPHA:36382 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Plagiocephaly, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the ... |
ORPHA:94066 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Parietal Foramina 3 |
|
Encephalocele |
OMIM:609566 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly |
ORPHA:2476 |
Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Short nose, Kyphosis, Hypogonadism, Short neck, Spina bifida occulta |
ORPHA:2983 |
Diencephalic Syndrome |
|
Optic atrophy, Long penis, Macrotia, Hydrocephalus, Everted lower lip vermilion |
ORPHA:1672 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Plagiocephaly, Talon cusp, Short metatarsal, Hitchhiker thumb, Carpal synostos... |
OMIM:605282 |
Desmosterolosis |
|
Abnormality of neuronal migration, Cleft palate, Short nose, Patent ductus arteriosus, Abnormalit... |
ORPHA:35107 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Hypospadias, Abnormality of neuronal migration, Abnormal cortical gyration, Abnormal penis morpho... |
ORPHA:2211 |
Aicardi-Goutieres Syndrome 4 |
|
Cerebellar atrophy, Death in childhood, CSF lymphocytic pleiocytosis, Ventriculomegaly, Progressi... |
OMIM:610333 |
Edinburgh Malformation Syndrome |
|
Death in infancy, Hydrocephalus |
OMIM:129850 |
Adenylosuccinate Lyase Deficiency |
|
Flat occiput, Hypointensity of cerebral white matter on MRI, Brachycephaly, Prominent metopic rid... |
ORPHA:46 |
Craniopharyngioma |
|
Enlarged pituitary gland, Cerebral calcification, Abnormal hypothalamus morphology, Pituitary hyp... |
ORPHA:54595 |
Scalp Defects-Postaxial Polydactyly Syndrome |
|
Encephalocele |
ORPHA:1003 |
Hyperphosphatasia With Mental Retardation Syndrome 1 |
|
Plagiocephaly, Tapered finger, Mandibular prognathia, Delayed ossification of carpal bones, Hydro... |
OMIM:239300 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Short neck, Microcephaly |
OMIM:613885 |
Pontocerebellar Hypoplasia, Type 1A |
|
Degeneration of anterior horn cells |
OMIM:607596 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
High, narrow palate, Cleft palate, Broad proximal phalanges of the hand, Facial cleft, Cleft uppe... |
OMIM:607597 |
Neuroferritinopathy |
|
Caudate atrophy, Abnormal caudate nucleus morphology, Iron accumulation in globus pallidus, Abnor... |
ORPHA:157846 |
Jackson-Weiss Syndrome |
|
Broad metatarsal, Broad hallux phalanx, 2-3 toe syndactyly, Toe syndactyly, Ptosis, Mandibular pr... |
ORPHA:1540 |
Mental Retardation, X-Linked, With Craniofacial Dysmorphism |
|
Plagiocephaly, Frontal bossing, Brachycephaly |
OMIM:300064 |
Linear Nevus Sebaceus Syndrome |
|
Dandy-Walker malformation, Plagiocephaly, Ventriculomegaly, Frontal bossing, Biparietal narrowing... |
ORPHA:2612 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Dandy-Walker malformation, Cleft palate, Macroglossia, Bifid uvula, Patent ductus arteriosus, Sen... |
OMIM:612938 |
Craniosynostosis 4 |
|
Flat occiput, Lambdoidal craniosynostosis, Anterior plagiocephaly, Optic nerve hypoplasia, Fronta... |
OMIM:600775 |
Brachydactyly, Type B1 |
|
Cutaneous finger syndactyly, Short middle phalanx of finger, Delayed eruption of permanent teeth,... |
OMIM:113000 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal pons morphology, Abnormality of the medulla oblongata, Abnormality of the cerebrospinal ... |
ORPHA:68 |
Triploidy |
|
Meningocele, Micrognathia, Cleft palate, Wide mouth, Macroglossia, Holoprosencephaly, Intestinal ... |
ORPHA:3376 |
48,Xyyy Syndrome |
|
Thick lower lip vermilion, High palate, Depressed nasal bridge, Long philtrum, Azoospermia, Irreg... |
ORPHA:99329 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Carious teeth, Abnormal palate morphology, Thick lower lip vermilion, Short nose, Thin vermilion ... |
ORPHA:2701 |
Anauxetic Dysplasia 3 |
|
Plagiocephaly, Short middle phalanx of finger, Midface retrusion, Genu valgum, Hip subluxation, S... |
OMIM:618853 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dandy-Walker malformation, Micrognathia, Abnormal cerebral cortex morphology, Agenesis of cerebel... |
ORPHA:163961 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Dandy-Walker malformation, Hydranencephaly, Holoprosencephaly, Ventriculomegaly, Macrocephaly, Hy... |
OMIM:617967 |
Leigh Syndrome With Cardiomyopathy |
|
Neuronal loss in basal ganglia, Diffuse white matter abnormalities, Abnormal cerebral cortex morp... |
ORPHA:70474 |
Microspherophakia With Hernia |
|
Retinal detachment, Microspherophakia, Superior lens subluxation |
OMIM:157150 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Dilated third ventricle, Colpocephaly, Rhizomelic arm shortening, Cerebellar hypoplasia, Abnormal... |
ORPHA:397715 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration, Cerebral calcification, Microcephaly, Ventriculomegaly |
ORPHA:1980 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular heterotopia, Periventricular nodular heterotopia, Progressive microcephaly, Hypop... |
OMIM:608097 |
Opitz-Kaveggia Syndrome |
|
Plagiocephaly, Partial agenesis of the corpus callosum, Micrognathia, Umbilical hernia, Delayed c... |
OMIM:305450 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Axonal degeneration, Degeneration of anterior horn cells |
OMIM:604484 |
Otodental Syndrome |
|
Carious teeth, Lens coloboma, Pulp calcification, Microphthalmia, Retinal coloboma, Long philtrum... |
ORPHA:2791 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Facial Clefting, Oblique, 1 |
|
Coloboma, Deep palmar crease, Facial cleft |
OMIM:600251 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Spermatogenic Failure 2 |
|
Oligospermia, Azoospermia |
OMIM:108420 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Retinal degeneration, Microphthalmia, Lissencephaly, Hypoplasia of the brainstem, Progressive mic... |
OMIM:615249 |
Alazami-Yuan Syndrome |
|
Underdeveloped nasal alae, Prominent nose, High palate, Long philtrum, Prominent nasal bridge, Hy... |
OMIM:617126 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Partial agenesis of the corpus callosum, Inferior vermis hypoplasia, Hydrocephalus, Cerebellar hy... |
OMIM:304100 |
49,Xyyyy Syndrome |
|
Micrognathia, Azoospermia, External genital hypoplasia, Low-set, posteriorly rotated ears, Ventri... |
ORPHA:99330 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Short nose, Anteverted nares, Spina bifida occulta |
ORPHA:1185 |
49,Xxxxy Syndrome |
|
Carious teeth, Arrhinencephaly, Cleft palate, Abnormal dental enamel morphology, Delayed eruption... |
ORPHA:96264 |
Lessel-Kreienkamp Syndrome |
|
Plagiocephaly, Patent ductus arteriosus, Frontal bossing, Wide cranial sutures, Scaphocephaly, De... |
OMIM:619149 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Cone-shaped epiphyses of the 4th toe, Ptosis... |
ORPHA:397973 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Frontal bossing, Macrocephaly, Agenesis of corpus callosum, Interhypothalamic Adhesion |
OMIM:618929 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal putamen morphology, Cerebral edema, Increased CSF protein, Abnormality of thalamus morph... |
ORPHA:88619 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
Cocaine Embryofetopathy |
|
Encephalocele |
ORPHA:1911 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus, Microcephaly |
OMIM:617244 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Abnormal palate morphology, Aplasia/Hypoplasia of the lens, Genu valgum, Anal atresia, Cataract |
ORPHA:1381 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux |
OMIM:234280 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Pericallosal lipoma, Scoliosis, Microcephaly |
ORPHA:398156 |
Aymé-Gripp Syndrome |
|
Plagiocephaly, Reduced arm span, Rocker bottom foot, Tapered finger, Brachycephaly, Large fontane... |
ORPHA:1272 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Schizencephaly, Ventriculomegaly, Porencephalic cyst, Polymicrogyria |
OMIM:614483 |
Amyotrophic Lateral Sclerosis |
|
Neurodegeneration, Amyotrophic lateral sclerosis, Motor neuron atrophy |
ORPHA:803 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Frontal cortical atrophy, Amyotrophic lateral sclerosis, Temporal cortical atrophy |
OMIM:167320 |
Acromelic Frontonasal Dysostosis |
|
Choroid plexus cyst, Cleft palate, Broad nasal tip, U-Shaped upper lip vermilion, Periventricular... |
OMIM:603671 |
Cousin Syndrome |
|
2-3 toe syndactyly, Cleft palate, Talipes equinovarus, Prominent protruding coccyx, Microglossia,... |
OMIM:260660 |
Hyperphosphatasia With Mental Retardation Syndrome 2 |
|
Plagiocephaly, Left unicoronal synostosis, Shortening of all distal phalanges of the fingers, Ant... |
OMIM:614749 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Male infertility, Reduced progressiv... |
OMIM:619585 |
Hydrolethalus |
|
Micrognathia, Cleft palate, Arrhinencephaly, Anencephaly, Agenesis of corpus callosum, Microphtha... |
ORPHA:2189 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Syringomyelia, Cervical myelopathy, Spina bifida, Hydrocephalus, Agenesis of co... |
OMIM:207950 |
Three M Syndrome 1 |
|
Depressed nasal bridge, Hyperlordosis, Anteverted nares, Short neck, Spina bifida occulta, Increa... |
OMIM:273750 |
Joubert Syndrome 1 |
|
Plagiocephaly, Occipital myelomeningocele, Dysgenesis of the cerebellar vermis, Agenesis of cereb... |
OMIM:213300 |
Parietal Foramina 2 |
|
Encephalocele |
OMIM:609597 |
Leber Congenital Amaurosis |
|
Encephalocele, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:65 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Depressed nasal bridge, Short nose, Abnormal form of the vertebral bodies, Sacral dimple, Spina b... |
ORPHA:1327 |
Orofaciodigital Syndrome Vi |
|
Toe syndactyly, Micrognathia, Postaxial polydactyly, Hypothalamic hamartoma, Radial deviation of ... |
OMIM:277170 |
Joubert Syndrome |
|
Encephalocele, Abnormal form of the vertebral bodies, Cerebellar vermis hypoplasia, Hydrocephalus... |
ORPHA:475 |
Distal Monosomy 10Q |
|
Prominent nose, Short nose, Wide nasal bridge, Prominent nasal bridge, Cavum septum pellucidum, D... |
ORPHA:96148 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Cryptorchidism |
OMIM:617796 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Bilateral sensorineural hearing impairment, Reduced s... |
OMIM:611102 |
Arthrogryposis, Distal, Type 2A |
|
Underdeveloped nasal alae, Kyphoscoliosis, Short nose, Wide nasal bridge, Short neck, Spina bifid... |
OMIM:193700 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Stillbirth, Syndactyly, Upper limb phocomelia, Abnormal hip bone morphology |
ORPHA:294975 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Plagiocephaly, Micrognathia, Cerebellar atrophy, Ventriculomegaly, Frontal bossing, Diffuse cereb... |
OMIM:617193 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Micrognathia, Wide proximal femoral metaphysis, Abnormal femoral neck/head morphology, Abnormalit... |
ORPHA:163649 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Plagiocephaly, Toe syndactyly, Micrognathia, Brachycephaly, Delayed closure of the anterior fonta... |
OMIM:610759 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Plagiocephaly, Slender finger |
OMIM:615656 |
Joubert Syndrome 16 |
|
Dandy-Walker malformation, Encephalocele |
OMIM:614465 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Toe syndactyly, Chiari malformation, Finger syndactyly, Foot polydactyly, Ventriculomegaly, Front... |
ORPHA:60040 |
Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
Abetal34V Amyloidosis |
|
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology |
ORPHA:324703 |
Cerebrooculonasal Syndrome |
|
Sparse eyelashes, Facial cleft, Upslanted palpebral fissure, Epicanthus, Postaxial hand polydacty... |
ORPHA:66625 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Large fontanelles, Bowing of the long bones, Congenital hip dislocation, Frontal bossing, Hydroce... |
OMIM:612940 |
Oculocerebrocutaneous Syndrome |
|
Dandy-Walker malformation, Hypoplasia of the corpus callosum, Orbital encephalocele, Agenesis of ... |
OMIM:164180 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Spina bifida occulta, Microcephaly |
OMIM:268850 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Hypospadias, Colpocephaly, Short nose, Uterus didelphys, Urogenital sinus anomaly, Micropenis, Po... |
OMIM:618820 |
Acrofacial Dysostosis, Palagonia Type |
|
Abnormal form of the vertebral bodies, Bulbous nose, Short neck, Spina bifida occulta, Scoliosis |
ORPHA:1787 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Micrognathia, Microcephaly, Short distal phalanx of finger, Abnormality of thalamus morphology, D... |
ORPHA:2959 |
Familial Afibrinogenemia |
|
Cerebral hemorrhage, Gingival bleeding, Epistaxis, Spontaneous abortion, Menometrorrhagia, Abnorm... |
ORPHA:98880 |
Fountain Syndrome |
|
Abnormal form of the vertebral bodies, Kyphosis, Spina bifida, Spina bifida occulta, Scoliosis |
ORPHA:3219 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Myelomeningocele, Encephalomalacia |
ORPHA:60015 |
Cerebral Cavernous Malformations 2 |
|
Cerebral hemorrhage, Telangiectasia, Cerebral cavernous malformation, Stroke |
OMIM:603284 |
Pseudoprogeria Syndrome |
|
Spinal arachnoid cyst, Cranium bifidum occultum, Microcephaly |
ORPHA:2985 |
Hydranencephaly |
|
Abnormal corpus striatum morphology, Atrophic pituitary gland, Thalamic edema, Dysgenesis of the ... |
ORPHA:2177 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Plagiocephaly, Postaxial polydactyly, Optic nerve hypoplasia, Ventriculomegaly, Hip dysplasia, Hy... |
ORPHA:457284 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased CSF lactate, Death in infancy, Focal T2 hyperintense thalamic lesion |
OMIM:619046 |
Amyotrophic Lateral Sclerosis 21 |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro... |
OMIM:606070 |
Neu-Laxova Syndrome |
|
Abnormality of neuronal migration, Cleft palate, Polymicrogyria, Abnormal cortical gyration, Depr... |
ORPHA:2671 |
Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Buphthalmos, Cleft palate, Retinal dysplasia, Peters anomaly, Polymicrogyria, Megalocornea, Agyri... |
OMIM:236670 |
Joubert Syndrome 14 |
|
Dandy-Walker malformation, Encephalocele, Hydrocephalus |
OMIM:614424 |
Meckel Syndrome 13 |
|
Occipital encephalocele, Cerebellar hypoplasia |
OMIM:617562 |
Acrocraniofacial Dysostosis |
|
Abnormal form of the vertebral bodies, Prominent nasal bridge, Anteverted nares, Choanal atresia,... |
ORPHA:949 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Retinal coloboma, Rod-cone dystrophy, Hypogonadism, Hydrocephalus, Cryptorchidism |
OMIM:601794 |
Hemimegalencephaly |
|
Optic atrophy, Abnormal neuron morphology, Hemimegalencephaly, Ventriculomegaly, Pachygyria, Poly... |
ORPHA:99802 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk, Progressive microcephaly, Cerebral atrophy, Hypoplasia of the c... |
OMIM:616657 |
Lissencephaly 6 With Microcephaly |
|
Widely spaced teeth, Partial agenesis of the corpus callosum, Wide mouth, Microlissencephaly, Per... |
OMIM:616212 |
Atelosteogenesis Type Ii |
|
Short lower limbs, Upper limb undergrowth, Midface retrusion, Excessive femoral anteversion, Hitc... |
ORPHA:56304 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
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Dandy-Walker malformation, Micrognathia, Hydranencephaly, Ventriculomegaly, Hypoplasia of the bra... |
OMIM:225790 |
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
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Adducted thumb, Flexion contracture of thumb, Absent septum pellucidum, Corticospinal tract hypop... |
OMIM:307000 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
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Wide nasal bridge, Aortic valve stenosis, Hyperlordosis, Cerebral calcification, Spina bifida occ... |
ORPHA:2780 |
Thanatophoric Dysplasia, Type I |
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Small abnormally formed scapulae, Short greater sciatic notch, Cloverleaf skull, Bowing of the lo... |
OMIM:187600 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
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2-3 toe syndactyly, Hydranencephaly, Talipes equinovarus, Neonatal death, Stillbirth, Hypoplasia ... |
OMIM:236500 |
Parietal Foramina 1 |
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Encephalocele |
OMIM:168500 |
Intellectual Disability-Strabismus Syndrome |
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Plagiocephaly, Micrognathia, Talipes equinovarus, Rocker bottom foot, Congenital finger flexion c... |
ORPHA:363528 |
Rubinstein-Taybi Syndrome 2 |
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Carious teeth, Micrognathia, Long eyelashes, Downslanted palpebral fissures, Syndactyly, Broad ha... |
OMIM:613684 |
Intellectual Developmental Disorder, X-Linked 104 |
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Optic atrophy, High palate, Abnormality of the pinna, Wide nasal bridge, Hyperactivity, Ataxia, R... |
OMIM:300983 |
Polyrrhinia |
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Abnormal third ventricle morphology, Abnormal nasal bone morphology, Supernumerary naris, Dilatio... |
ORPHA:141091 |
Anencephaly 2 |
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Anencephaly, Cleft of alveolar ridge of maxilla, Anophthalmia, Median cleft palate, Median cleft lip |
OMIM:619452 |
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet |
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Broad metatarsal, Micrognathia, Brachycephaly, Trigonocephaly, Broad phalanx, Prominent metopic r... |
OMIM:275595 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
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Plagiocephaly, Micrognathia, Dilated fourth ventricle, Hypoplasia of the pons, Optic nerve hypopl... |
OMIM:300749 |
Frontonasal Dysplasia 3 |
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Facial cleft, Upper eyelid coloboma, Sparse eyelashes, Absent eyebrow |
OMIM:613456 |
White Forelock With Malformations |
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Spina bifida occulta |
ORPHA:2475 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Cerebellar cyst, Holoprosencephaly, Encephalocele, Lissencephaly, Pachygyria, Spinal rigidity, Hy... |
OMIM:253800 |
Gorlin Syndrome |
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Carious teeth, Vertebral fusion, Palmar pits, Mandibular prognathia, Arachnodactyly, Iris colobom... |
ORPHA:377 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
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Smooth philtrum, Bulbous nose, Thick nasal alae, Prominent nose, Prominent nasal tip, Choroid ple... |
ORPHA:293725 |
Bartsocas-Papas Syndrome 1 |
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Talipes equinovarus, Syndactyly, Pterygium, Cicatricial lagophthalmos, Hypoplasia of the maxilla,... |
OMIM:263650 |
Juvenile Neuronal Ceroid Lipofuscinosis |
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Cerebellar atrophy, Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic le... |
ORPHA:79264 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
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Chiari malformation, Brachycephaly, Frontal bossing, Abnormality of the metacarpal bones, Aplasia... |
ORPHA:93262 |
Cerebral Amyloid Angiopathy, Cst3-Related |
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Cerebral hemorrhage, Stroke, Intracranial hemorrhage |
OMIM:105150 |
Spermatogenic Failure 41 |
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Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
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Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Biemond Syndrome Type 2 |
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Hypospadias, Hypogonadotropic hypogonadism, Hydrocephalus, Hypogonadism |
ORPHA:141333 |
Weill-Marchesani Syndrome 2 |
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Short metatarsal, Patent ductus arteriosus, Hypoplasia of the maxilla, Umbilical hernia, Elbow fl... |
OMIM:608328 |
Meckel Syndrome, Type 3 |
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Dandy-Walker malformation, Occipital encephalocele, Hydrocephalus |
OMIM:607361 |
Mental Retardation, Autosomal Dominant 33 |
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Hyperactivity, Microcephaly, Chorioretinal degeneration |
OMIM:616311 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
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Plagiocephaly, Craniosynostosis, Patent ductus arteriosus, Microcephaly, Microretrognathia, Brach... |
ORPHA:457193 |
Albers-Schönberg Osteopetrosis |
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Carious teeth, Optic atrophy, Abnormality of epiphysis morphology, Generalized osteosclerosis, Ar... |
ORPHA:53 |
Arachnoid Cyst |
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Chiari malformation, Holoprosencephaly, Encephalocele, Sciatica, Spinal cord compression, Back pa... |
ORPHA:2356 |
Pseudo-Torch Syndrome 2 |
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Cerebral hemorrhage, Petechiae, Bradycardia, Ventriculomegaly, Polymicrogyria, Cerebral calcifica... |
OMIM:617397 |
Meckel Syndrome, Type 9 |
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Occipital encephalocele |
OMIM:614209 |
Adnp Syndrome |
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Plagiocephaly, 2-3 toe syndactyly, Polydactyly, Brachycephaly, Trigonocephaly, Abnormality of toe... |
ORPHA:404448 |
Autosomal Recessive Spastic Paraplegia Type 11 |
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Hypothalamic atrophy, Focal T2 hyperintense basal ganglia lesion, Abnormal substantia nigra morph... |
ORPHA:2822 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
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Flat occiput, Cone-shaped epiphysis, Large fontanelles, Brachycephaly, Mandibular prognathia, Abn... |
ORPHA:2511 |
Japanese Encephalitis |
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Abnormal pons morphology, Talipes equinovarus, Abnormal cerebral morphology, Abnormal caudate nuc... |
ORPHA:79139 |
Maternal Hyperthermia-Induced Birth Defects |
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Abnormality of neuronal migration, Hypoplasia of penis, Cleft palate, Microcephaly |
ORPHA:2216 |
Mohr Syndrome |
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Cleft palate, Accessory oral frenulum, Metaphyseal irregularity, Syndactyly, Hydrocephalus, Hypop... |
OMIM:252100 |
Joubert Syndrome 7 |
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Encephalocele, Scoliosis, Abnormal corpus callosum morphology |
OMIM:611560 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
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High palate, Ectopia lentis, Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea |
OMIM:251750 |
Acromelic Frontonasal Dysplasia |
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Meningocele, Hypoplasia of the olfactory bulb, Encephalocele, Ventriculomegaly, Anterior pituitar... |
ORPHA:1827 |
Czeizel-Losonci Syndrome |
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Myelomeningocele, Spina bifida, Hydrocephalus, Spina bifida occulta, Thoracolumbar scoliosis |
ORPHA:2437 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Brachycephaly, Ventriculomegaly, Hip dislocation, Macrocephaly, Hydrocephalus, Coxa valga, Hypopl... |
OMIM:109120 |
Osteolysis Syndrome, Recessive |
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Distal radial epiphyseal osteolysis, Osteolytic defects of the middle phalanges of the hand, Meta... |
OMIM:259610 |
16P13.11 Microdeletion Syndrome |
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Abnormality of neuronal migration, Cleft palate, Smooth philtrum, Wide mouth, Depressed nasal bri... |
ORPHA:261236 |
Polydactyly, Postaxial, Type A5 |
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Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly, Metacarpal synostosis |
OMIM:263450 |
Vas Deferens, Congenital Bilateral Aplasia Of |
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Azoospermia |
OMIM:277180 |
Spermatogenic Failure 29 |
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Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
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Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
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Azoospermia |
OMIM:615842 |