Cerebellar Degeneration-Related Autoantigen 3 |
|
Abnormal cerebellum morphology |
OMIM:602197 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft |
OMIM:609227 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Type II lissencephaly, Cerebellar dysplasia, Neural tube defect |
OMIM:615041 |
Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... |
OMIM:214450 |
Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism |
ORPHA:79478 |
Lissencephaly 1 |
|
Gray matter heterotopia, Cerebellar hypoplasia, Agyria, Lissencephaly, Subcortical band heterotop... |
OMIM:607432 |
Uncombable Hair Syndrome |
|
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology |
ORPHA:1410 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Polymicrogyria |
OMIM:604213 |
Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... |
ORPHA:42665 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Heterochromia iridis, Premature graying of hair |
OMIM:600193 |
Dilution, Pigmentary |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:126070 |
Periventricular Nodular Heterotopia 8 |
|
Cerebellar vermis atrophy, Periventricular nodular heterotopia |
OMIM:618185 |
Microlissencephaly |
|
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... |
ORPHA:1083 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Gray matter heterotopia, Cerebellar hypoplasia, Hydrocephalus, Type II lissencephaly, Dysgyria, O... |
ORPHA:352682 |
Albinism-Deafness Syndrome |
|
Albinism, Partial albinism, Patchy hypo- and hyperpigmentation, Piebaldism |
OMIM:300700 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:615411 |
Lissencephaly 3 |
|
Gray matter heterotopia, Agyria, Cerebellar vermis hypoplasia, Lissencephaly, Pachygyria, Periven... |
OMIM:611603 |
Ermine Phenotype |
|
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo |
OMIM:227010 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... |
OMIM:619947 |
Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Spina bifida, Hydrocepha... |
ORPHA:945 |
Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Death in infancy, Agyria, Lissencephaly, Pachygyria |
OMIM:300067 |
Albinism-Deafness Syndrome |
|
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Heterochromia iridis, Partia... |
ORPHA:998 |
Woolly Hair |
|
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... |
ORPHA:170 |
Lissencephaly 5 |
|
Cerebellar hemisphere hypoplasia, Gray matter heterotopia, Hydrocephalus, Type II lissencephaly, ... |
OMIM:615191 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Hypotrichosis 8 |
|
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... |
OMIM:278150 |
Hidrotic Ectodermal Dysplasia |
|
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... |
ORPHA:189 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Waardenburg Syndrome, Type 4B |
|
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:613265 |
Neurocutaneous Melanocytosis |
|
Aplasia/Hypoplasia of the cerebellum, Meningocele, Melanocytic nevus, Chiari malformation, Abnorm... |
ORPHA:2481 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Agyria, Pachygyria |
ORPHA:1084 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cerebellar dysplasia, Cerebellar hypoplasia, Simplified gyral pattern, Cerebellar cyst, Hydroceph... |
OMIM:613153 |
Leber Congenital Amaurosis |
|
Aplasia/Hypoplasia of the cerebellar vermis, Encephalocele, Abnormality of neuronal migration, Ab... |
ORPHA:65 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... |
OMIM:172800 |
Sub-Cortical Nodular Heterotopia |
|
Subcortical heterotopia, Abnormality of neuronal migration, Polymicrogyria |
ORPHA:101029 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Abnormality of neuronal migration |
OMIM:618709 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Death in infancy, Cerebellar hypoplasia, Agyria, Lissencephaly, Hirsutism, Neonatal death, Low an... |
OMIM:616342 |
Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... |
OMIM:193510 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... |
OMIM:607624 |
Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Simplified gyral pattern, Synophrys, Lissencephaly, Microlissencepha... |
OMIM:616212 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Gray matter heterotopia, Cerebellar dysplasia, Cerebellar cyst, Cerebel... |
OMIM:615960 |
Polymicrogyria Due To Tubb2B Mutation |
|
Gray matter heterotopia, Perisylvian polymicrogyria, Lissencephaly, Hypoplasia of the pons, Pachy... |
ORPHA:300573 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect |
OMIM:619165 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral pattern, Lissencepha... |
OMIM:604317 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Cerebellar atrophy, Cerebellar cyst, Gray matter heterotopia, Pachygyria |
ORPHA:370980 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... |
ORPHA:79414 |
Subependymal Nodular Heterotopia |
|
Meningocele, Gray matter heterotopia, Myelomeningocele, Abnormality of neuronal migration, Occipi... |
ORPHA:101030 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Periventricular heterotopia, Cerebellar hypoplasia, Simplified gyral pattern, Hypoplasia of the p... |
OMIM:616171 |
Oculocutaneous Albinism Type 3 |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... |
ORPHA:79433 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Multiple cafe-au-lait spots |
OMIM:619101 |
Waardenburg Syndrome Type 2 |
|
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... |
ORPHA:895 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Neonatal death, Abnormal cortical gyration, Polymicrogyria |
OMIM:619602 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Periventricular heterotopia, Simplified gyral pattern, Cerebellar vermis hypoplasia, Cerebellar h... |
OMIM:618273 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... |
OMIM:203200 |
Joubert Syndrome 30 |
|
Cerebellar atrophy, Superior cerebellar dysplasia, Gray matter heterotopia, Dandy-Walker malforma... |
OMIM:617622 |
Piebaldism |
|
Piebaldism, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock... |
ORPHA:2884 |
Chiari Malformation Type Ii |
|
Gray matter heterotopia, Myelomeningocele, Chiari malformation, Spina bifida, Hydrocephalus, Cerv... |
OMIM:207950 |
Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... |
ORPHA:2885 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... |
OMIM:256710 |
Band Heterotopia |
|
Gray matter heterotopia, Hydrocephalus, Subcortical band heterotopia, Polymicrogyria |
OMIM:600348 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Gray matter heterotopia, Dandy-Walker malformation, Orbital encephalocele |
OMIM:164180 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Exencephaly, Encephalocele, Abnormality of neuronal migration, Abnormal cortical gyration, Macrog... |
ORPHA:2211 |
Periventricular Nodular Heterotopia 1 |
|
Gray matter heterotopia, Abnormality of neuronal migration, Cerebellar hypoplasia |
OMIM:300049 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormality of neuronal migration, Pachygyria, Cerebellar hypoplasia |
OMIM:608840 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Gray matter heterotopia, Subcortical heterotopia, Encephalocele, Death in infancy, Cerebellar hyp... |
OMIM:614643 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Gray matter heterotopia, Abnormal... |
ORPHA:370959 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly |
ORPHA:89844 |
Edinburgh Malformation Syndrome |
|
Brushfield spots, Abnormality of neuronal migration, Synophrys, Hydrocephalus, Hirsutism, Low pos... |
ORPHA:1895 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Premature graying of hair, Synophrys, White eyelashes, White eyebrow... |
ORPHA:897 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration |
ORPHA:1314 |
Hemimegalencephaly |
|
Abnormal neuron morphology, Gray matter heterotopia, Pachygyria, Polymicrogyria |
ORPHA:99802 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration |
ORPHA:2216 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration |
ORPHA:2772 |
Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... |
ORPHA:79435 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Premature graying of hair, Spina bifida, Synophrys, White eyelashes, White eyebrow, ... |
ORPHA:894 |
Walker-Warburg Syndrome |
|
Abnormality of neuronal migration, Abnormal cortical gyration, Cerebellar hypoplasia, Abnormal ce... |
ORPHA:899 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Abnormal eyelash morphol... |
ORPHA:2518 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormality of neuronal migration, Abnormal cerebellum morphology, Cerebellar vermis hypoplasia |
OMIM:300957 |
Oculocutaneous Albinism |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... |
ORPHA:55 |
Joubert Syndrome |
|
Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Polymicrogyria, Highly arched ey... |
ORPHA:475 |
Vici Syndrome |
|
Hypopigmentation of the skin, Gray matter heterotopia, Death in infancy, Cerebellar hypoplasia, A... |
ORPHA:1493 |
Hypomelanosis Of Ito |
|
Alopecia, Gray matter heterotopia, Macular hypopigmented whorls, streaks, and patches |
OMIM:300337 |
Neu-Laxova Syndrome |
|
Abnormality of neuronal migration, Abnormal cortical gyration, Cerebellar hypoplasia, Abnormal ce... |
ORPHA:2671 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Highly arched eyebrow, Cerebella... |
ORPHA:2318 |
Dysplastic Cortical Hyperostosis |
|
Abnormality of neuronal migration |
ORPHA:2204 |
Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... |
ORPHA:79432 |
Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Pachygyria |
ORPHA:2512 |
Thanatophoric Dysplasia Type 2 |
|
Holoprosencephaly, Hydrocephalus, Encephalocele, Abnormality of neuronal migration |
ORPHA:93274 |
Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... |
ORPHA:79434 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular heterotopia, Pachygyria, Cerebellar hypoplasia |
ORPHA:255138 |
Alkuraya-Kucinskas Syndrome |
|
Gray matter heterotopia, Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Lissencephal... |
OMIM:617822 |
3C Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Death in infancy, Hydroc... |
ORPHA:7 |
Holoprosencephaly 14 |
|
Gray matter heterotopia, Aqueductal stenosis, Periventricular heterotopia, Hydrocephalus, Alobar ... |
OMIM:619895 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Simplified gyral pattern, Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly |
OMIM:615219 |
Glutathionuria |
|
Gray matter heterotopia |
OMIM:231950 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia, Sparse lateral eyebrow |
OMIM:619694 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Cerebellar hemisphere hypoplasia, Gray matter heterotopia, Cerebellar hypoplasia, Anencephaly, Hy... |
OMIM:615287 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of neuronal migration, Abnormality of retinal pigmentation |
ORPHA:44 |
Periventricular Nodular Heterotopia 7 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria |
OMIM:617201 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Abnormality of neuronal migration, Hydrocephalus, Cerebellar vermis hypoplasia, Pachygyria, Polym... |
ORPHA:157 |
Albinism, Oculocutaneous, Type Ia |
|
Ocular albinism, Albinism, Hypopigmentation of hair, White hair, Blue irides, Absent skin pigment... |
OMIM:203100 |
Joubert Syndrome With Hepatic Defect |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Hydrocephalus, Occipital... |
ORPHA:1454 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Polymicrogyria, Cerebellar hypoplasia |
OMIM:617397 |
Congenital Disorder Of Deglycosylation 2 |
|
Gray matter heterotopia, Highly arched eyebrow, Polymicrogyria, Cerebellar vermis hypoplasia |
OMIM:619775 |
Tetrasomy 18P |
|
Abnormality of neuronal migration |
ORPHA:3307 |
Radio-Tartaglia Syndrome |
|
High anterior hairline, Gray matter heterotopia, Small nail, Synophrys, Long eyebrows, Long eyela... |
OMIM:619312 |
Desmosterolosis |
|
Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Hydrocephalus, Lissenc... |
ORPHA:35107 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia |
OMIM:617008 |
Coffin-Lowry Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Abnormality of retinal p... |
ORPHA:192 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormal neuron morphology, Cerebellar vermis atrophy, Abnormality of neuronal migration |
ORPHA:163681 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Gray matter heterotopia, Frontal polymicrogyria, Pachygyria, Neonatal death, Cerebellar vermis hy... |
OMIM:620024 |
Thanatophoric Dysplasia, Type I |
|
Gray matter heterotopia, Neonatal death, Hydrocephalus |
OMIM:187600 |
Thanatophoric Dysplasia |
|
Gray matter heterotopia, Hydrocephalus |
ORPHA:2655 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormality of neuronal migration, Hydrocephalus, Cerebellar vermis hypoplasia, Pachygyria, Polym... |
ORPHA:228308 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
High anterior hairline, Gray matter heterotopia, Horizontal eyebrow, Thick eyebrow, Low anterior ... |
OMIM:618797 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Gray matter heterotopia, Neonatal death, Polymicrogyria |
OMIM:614887 |
6Q Terminal Deletion Syndrome |
|
Gray matter heterotopia, Abnormality of neuronal migration, Periventricular heterotopia, Cerebell... |
ORPHA:75857 |
Bohring-Opitz Syndrome |
|
Gray matter heterotopia, Low anterior hairline, Supernumerary nipple, Hirsutism, Hypertrichosis, ... |
OMIM:605039 |
Acromelic Frontonasal Dysostosis |
|
Retrocerebellar cyst, Gray matter heterotopia, Encephalocele, Periventricular nodular heterotopia... |
OMIM:603671 |
Galloway-Mowat Syndrome |
|
Abnormality of neuronal migration, Aqueductal stenosis, Pachygyria |
ORPHA:2065 |
Holoprosencephaly |
|
Aplasia/Hypoplasia of the cerebellum, Spinal dysraphism, Encephalocele, Branchial anomaly, Abnorm... |
ORPHA:2162 |
Orofaciodigital Syndrome I |
|
Alopecia, Dry hair, Gray matter heterotopia, Myelomeningocele, Abnormal cortical gyration, Cerebe... |
OMIM:311200 |
Aicardi Syndrome |
|
Gray matter heterotopia, Sparse lateral eyebrow, Chiari malformation, Spina bifida, Polymicrogyri... |
OMIM:304050 |
Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia, Hydrocephalus |
OMIM:219730 |
Bilateral Perisylvian Polymicrogyria |
|
Cerebellar dysplasia, Abnormality of neuronal migration, Perisylvian predominant thick cortex pac... |
ORPHA:98889 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hypoplastic toenails, Polymicrogyria, Abnormality of neuronal migration, Death in infancy |
OMIM:608836 |
Fontaine Progeroid Syndrome |
|
Gray matter heterotopia, Sparse scalp hair, Small nail, Neonatal death, Periventricular heterotop... |
OMIM:612289 |
Orofaciodigital Syndrome Type 6 |
|
Highly arched eyebrow, Abnormality of neuronal migration, Cerebellar vermis hypoplasia |
ORPHA:2754 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Gray matter heterotopia, Long eyelashes, Broad lateral eyebrow |
OMIM:608624 |
Van Maldergem Syndrome 1 |
|
Gray matter heterotopia, Simplified gyral pattern, Periventricular nodular heterotopia, Subcortic... |
OMIM:601390 |
Pagod Syndrome |
|
Meningocele, Encephalocele, Abnormality of neuronal migration, Death in infancy, Spina bifida |
ORPHA:991 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse eyebrow, Gray matter heterotopia, Sparse scalp hair, Abnormal cortical gyration, Death in ... |
OMIM:210710 |
Thanatophoric Dysplasia Type 1 |
|
Gray matter heterotopia, Hydrocephalus |
ORPHA:1860 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2063 |
Vici Syndrome |
|
Hypopigmentation of the skin, Gray matter heterotopia, Ocular albinism, Albinism, Hypopigmentatio... |
OMIM:242840 |
Arima Syndrome |
|
Dilated fourth ventricle, Gray matter heterotopia, Occipital meningocele, Agenesis of cerebellar ... |
OMIM:243910 |
16P13.11 Microdeletion Syndrome |
|
Holoprosencephaly, Abnormality of neuronal migration |
ORPHA:261236 |
Hydrolethalus Syndrome 1 |
|
Gray matter heterotopia, Abnormal cortical gyration, Anencephaly, Arrhinencephaly, Stillbirth, Se... |
OMIM:236680 |
Cerebrofacioarticular Syndrome |
|
Gray matter heterotopia, Cerebellar vermis hypoplasia |
ORPHA:314679 |
Van Maldergem Syndrome 2 |
|
High anterior hairline, Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical... |
OMIM:615546 |
Opitz-Kaveggia Syndrome |
|
Gray matter heterotopia, Frontal upsweep of hair, Hydrocephalus, Fine hair, Sparse hair, Umbilica... |
OMIM:305450 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Brushfield spots, Gray matter heterotopia, Death in childhood, Pigmentary retinopathy, Polymicrog... |
OMIM:214100 |
Periventricular Nodular Heterotopia 9 |
|
Gray matter heterotopia, Synophrys, Periventricular nodular heterotopia, Hirsutism, Polymicrogyria |
OMIM:618918 |
Koolen-De Vries Syndrome |
|
Fair hair, Iris hypopigmentation, Abnormality of hair texture, Gray matter heterotopia |
OMIM:610443 |
9Q21.13 Microdeletion Syndrome |
|
Gray matter heterotopia |
ORPHA:531151 |
Congenital Ptosis |
|
Long eyelashes, Cafe-au-lait spot, Piebaldism |
ORPHA:91411 |
Alg11-Cdg |
|
Gray matter heterotopia |
ORPHA:280071 |
Miller-Dieker Lissencephaly Syndrome |
|
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria |
OMIM:247200 |
Orofaciodigital Syndrome Xvi |
|
Gray matter heterotopia |
OMIM:617563 |
Orofaciodigital Syndrome Xiv |
|
Periventricular heterotopia, Cerebellar hypoplasia, Simplified gyral pattern, Polymicrogyria, Hol... |
OMIM:615948 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Gray matter heterotopia, Holoprosencephaly, Chiari malformation, Polymicrogyria |
OMIM:618820 |
Nijmegen Breakage Syndrome |
|
Abnormality of neuronal migration, Freckling, Abnormal hair quantity, Abnormal hair morphology, L... |
ORPHA:647 |
Mismatch Repair Cancer Syndrome 1 |
|
Axillary freckling, Gray matter heterotopia, Hypopigmentation of the skin, Multiple cafe-au-lait ... |
OMIM:276300 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gray matter heterotopia |
ORPHA:26791 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Gray matter heterotopia, Branchial anomaly |
ORPHA:453499 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Holoprosencephaly, Abnormality of neuronal migration |
ORPHA:3186 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Abnormality of neuronal migration |
ORPHA:464311 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Gray matter heterotopia, Branchial anomaly, Supernumerary nipple |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Gray matter heterotopia, Branchial anomaly, Supernumerary nipple |
ORPHA:352665 |
Proteus Syndrome |
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Irregular hyperpigmentation, Abnormality of skin pigmentation, Melanocytic nevus, Gray matter het... |
ORPHA:744 |