Megalencephaly, Autosomal Dominant |
|
Hydrocephalus, Macrocephaly |
OMIM:155350 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus, Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebellar hypoplasia, Ce... |
ORPHA:2703 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy... |
OMIM:604213 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly, Macrocephaly |
OMIM:615938 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Cerebellar atrophy, Microcephaly, Cerebral atrophy, Hypoplasia of the brainstem, Ventriculomegaly |
OMIM:618730 |
Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Progressive microcephaly, Ventriculomegaly, Microcephaly |
OMIM:613402 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Ataxia, Depression, Lateral ventricle dilatation, Dementia |
OMIM:615889 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Aggressive behavior, Euphoria, Frontal lobe dementia, Lateral ventricle dilatation, Inappropriate... |
OMIM:221770 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation |
OMIM:123155 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly, Macrocephaly |
OMIM:611808 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly, Macrocephaly |
OMIM:615937 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Cerebellar atrophy, Cerebral atrophy, Ventriculomegaly, Macrocephaly |
OMIM:613925 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Hypoplasia of the pons, Limb ataxia, Degeneration of anterior horn cells, Hypoplasia of t... |
OMIM:607596 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Hy... |
OMIM:220200 |
Xq27.3Q28 Duplication Syndrome |
|
Decreased testicular size, Short stature, Cryptorchidism, Small hand, Short foot, Deeply set eye,... |
ORPHA:261483 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Primary microcephaly |
ORPHA:171703 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Macrocephaly, Hydrocephalus, Ventriculomegaly, Microcephaly |
OMIM:618709 |
Familial Congenital Mirror Movements |
|
Cerebral palsy, Hypogonadotropic hypogonadism, Clumsiness, Poor fine motor coordination, Abnormal... |
ORPHA:238722 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Bradyphrenia, Short attention span, Broad-based gait, Ataxia, Impulsivity, Inability to walk, Bra... |
OMIM:617854 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Hypoplasia of the pons, Abnormal brainstem morphology, Lateral ventricle dila... |
ORPHA:300573 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation, Macrocephaly |
OMIM:607091 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem, Cerebral cort... |
OMIM:617862 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation |
ORPHA:1538 |
Cach Syndrome |
|
Cerebellar atrophy, Progressive neurologic deterioration, Atrophy/Degeneration affecting the brai... |
ORPHA:135 |
Microlissencephaly |
|
Cerebellar atrophy, Cerebral cortical atrophy, Ventriculomegaly, Microcephaly |
ORPHA:1083 |
Masa Syndrome |
|
Microcephaly, Hydrocephalus, Macrocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:303350 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Infe... |
OMIM:304100 |
Band Heterotopia |
|
Hydrocephalus, Lateral ventricle dilatation, Macrocephaly, Agenesis of corpus callosum, Ventricul... |
OMIM:600348 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Brain atrophy, Hydrane... |
OMIM:617967 |
Microphthalmia-Brain Atrophy Syndrome |
|
Tongue thrusting, Abnormal pons morphology, Lateral ventricle dilatation, Atrophy/Degeneration af... |
ORPHA:77299 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Lacrimation abnormality, Short stature, Sparse eyebrow, Fine hair, M... |
ORPHA:1882 |
Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation, Cerebellar hypoplasia, Hypoplasia of the brainstem |
OMIM:618266 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Microcephaly |
OMIM:618973 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Lateral ventricle dilatation, Difficulty walking, Depression |
ORPHA:306669 |
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy |
|
Cerebellar atrophy, Brain atrophy, Microcephaly |
OMIM:618741 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Macrocephaly |
ORPHA:99966 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Macrocephaly |
OMIM:307000 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Corpus callosum atrophy, Cerebral cortical atrophy |
OMIM:615268 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Microcephaly, Hypoplasia of the pons, Dysplastic corpus callosum, Global brai... |
OMIM:618276 |
Autosomal Recessive Spastic Paraplegia Type 32 |
|
Abnormal pons morphology, Cerebellar cortical atrophy |
ORPHA:171622 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Inability to walk, Lateral ventricle dilatation, Abnormal repetitive ma... |
OMIM:613443 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Cerebellar atrophy, Ventriculomegaly |
OMIM:619323 |
Horner Syndrome, Congenital |
|
Deeply set eye, Heterochromia iridis, Paralysis |
OMIM:143000 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive |
|
Cerebellar atrophy, Microcephaly |
OMIM:615596 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Adult Krabbe Disease |
|
Ataxia, Abnormal pyramidal tract morphology, Hoffmann sign, Progressive spastic paraparesis, Babi... |
ORPHA:206448 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Loss of ambulation, Lateral ventricle dilatation, Dilated third ventricle, Progressive neurologic... |
OMIM:620315 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:618221 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Cerebellar vermis atrophy |
OMIM:616410 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplasia of the brainstem, Cerebellar h... |
OMIM:619302 |
Craniotelencephalic Dysplasia |
|
Microcephaly, Hydrocephalus, Frontal encephalocele, Cerebellar hypoplasia, Agenesis of corpus cal... |
ORPHA:1528 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Lateral ventricle dilatati... |
OMIM:617751 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Ataxia, Aplasia/Hypoplasia of the cerebellar vermis, Partial absence of cerebellar vermis, Retroc... |
ORPHA:137831 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia, Hypoplasia of the pons, Lateral ventricle dilatation, Spina bifida occult... |
OMIM:618736 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Dilated fourth ventricle, Ataxia, Small for gestational age, Choreoathetosis, Cerebellar vermis a... |
OMIM:619054 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Cerebellar atrophy, Cerebral atrophy, Microcephaly |
OMIM:611726 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Partial agenesis of the corpus ca... |
OMIM:615771 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Inability to walk, Dysmetria, Gait ataxia, ... |
OMIM:614831 |
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Deeply set eye, Truncal obesity, Melanocytic nevus |
OMIM:300471 |
Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Chorea, Impaired proprioception, Dysmetria, Spinocereb... |
OMIM:164400 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Hsd10 Disease |
|
Short attention span, Ataxia, Optic atrophy, Choreoathetosis, Gait disturbance, Dysphagia, Abnorm... |
ORPHA:391417 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Macrocephaly at birth, Occipital encephalocele, Hydrocephalus, Cerebellar malformation, Ventricul... |
ORPHA:324416 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Neuronal loss in central nervous system, Cerebral c... |
OMIM:615362 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Short stature, Limb tremor, Deeply set eye, Hypertonia, Myoclonus, Slender build |
OMIM:300699 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Ataxia, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Cerebellar ... |
OMIM:213200 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Pain insensitivity, Ataxia, Hydrocephalus, Depression, Par... |
ORPHA:73256 |
Pontocerebellar Hypoplasia, Type 13 |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Inability to walk, Gait ataxia, Lateral ven... |
OMIM:618606 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Facial palsy, Abnormal cerebellum morphology, Distal sensory impairment, Lateral ventricle dilata... |
OMIM:256850 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ataxia, Small for gestational age, Inability to walk, Cerebellar gliosis, Partial agenesis of the... |
ORPHA:79243 |
Chromosome 20Q11-Q12 Deletion Syndrome |
|
Hypertelorism, Adducted thumb, Tarsal osteovalgus, Finger clinodactyly, Deeply set eye, Camptodac... |
OMIM:614257 |
Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Ataxia, Lateral ventricle dilatat... |
OMIM:608629 |
Developmental And Epileptic Encephalopathy 76 |
|
Cerebellar atrophy, Cerebral atrophy, Microcephaly |
OMIM:618468 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:614120 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Cognitive impairment, Decreased body weight |
ORPHA:324422 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thick hair, Synophrys, Low posterior hairline, Deeply set eye, Truncal obesity, Spasticity, Thick... |
ORPHA:2429 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, A... |
ORPHA:370022 |
Gerstmann-Straussler-Scheinker Syndrome |
|
Limb myoclonus, Abnormal pyramidal tract morphology, Abnormality of extrapyramidal motor function... |
ORPHA:356 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Intellectual Developmental Disorder, X-Linked 108 |
|
Overweight, Babinski sign, Deeply set eye, Clinodactyly of the 5th finger, High anterior hairline |
OMIM:301024 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Short attention span, Orthostatic hypotension, Abnormal substantia nigra morphology, Ataxia, Over... |
ORPHA:2822 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... |
OMIM:600363 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ... |
OMIM:609637 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Chiari type I malformation, Cerebellar atrophy, Microcephaly |
OMIM:619742 |
Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Deeply set eye, Short stature, Obesity |
OMIM:619058 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:614830 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Iron accumulation in substantia nigra, Corpus callosum atrophy, Cerebellar ve... |
OMIM:619389 |
Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, Hypertelorism, 2-3 toe syndactyly, Obesity, Deeply set eye, Polydactyly, H... |
OMIM:615984 |
Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy |
ORPHA:458798 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Cerebellar dysplasia |
OMIM:615041 |
Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy |
ORPHA:98766 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Restlessness, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Abnormal den... |
OMIM:619517 |
Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:614019 |
20Q11.2 Microdeletion Syndrome |
|
Hypertelorism, Adducted thumb, Finger clinodactyly, Deeply set eye, Camptodactyly, Intrauterine g... |
ORPHA:444051 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Microcephaly, Abnormal cerebellum morphology, Abnormal brainstem morphology, Cerebral atrophy, In... |
ORPHA:255182 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired temperature sen... |
DECIPHER:29 |
Developmental And Epileptic Encephalopathy 65 |
|
Cerebellar atrophy, Cerebral atrophy, Ventriculomegaly, Microcephaly |
OMIM:618008 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal tracts, Degeneration of ... |
OMIM:105400 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Decreased testicular size, Short stature, Small for gestational age, Cryptorchidism, Small hand, ... |
OMIM:300869 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar atrophy, Abnormal lateral ventricle morphology, Gait ataxia, Gait imbalance, Cerebella... |
ORPHA:488635 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Agenesis of corpus callosum, Cerebral atrophy, Macrocephaly |
ORPHA:166024 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Lacrimation abnormality, Spina bifida, ... |
ORPHA:894 |
Nescav Syndrome |
|
Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Microcephaly |
OMIM:614255 |
Spastic Paraplegia 2, X-Linked |
|
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Babinski sign, Spastic p... |
OMIM:312920 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Progressive psychomotor deterioration, Dysm... |
ORPHA:1170 |
Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Decreased body weight |
OMIM:619420 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Impaired vibration sensation in the lower limbs, Colpocephaly, Cerebellar hypoplasia, Difficulty ... |
ORPHA:401815 |
Lissencephaly 5 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Hypoplasia of the brainstem... |
OMIM:615191 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly, Macrocephaly |
ORPHA:2185 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:617127 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Short attention span, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Inabi... |
ORPHA:300570 |
Autosomal Dominant Spastic Paraplegia Type 19 |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, L... |
ORPHA:100999 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Impaired social... |
OMIM:608636 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum... |
OMIM:616171 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Short stature, Camptodactyly of finger, Tapered finger, Cryptorchidism, Spasticity, Deeply set ey... |
ORPHA:85279 |
Craniosynostosis 6 |
|
Cerebellar atrophy, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callos... |
OMIM:616602 |
Spinocerebellar Ataxia 45 |
|
Cerebellar atrophy |
OMIM:617769 |
Gómez-López-Hernández Syndrome |
|
Abnormal cerebellum morphology, Hydrocephalus, Cerebellar vermis hypoplasia, Abnormal brainstem m... |
ORPHA:1532 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Cerebellar atrophy, Hydrocephalus, Microcephaly |
OMIM:618302 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Corticospinal tract atrophy, Ataxia |
OMIM:551500 |
Spastic Paraplegia 8, Autosomal Dominant |
|
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Babinski sign, Spastic p... |
OMIM:603563 |
Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy |
OMIM:613371 |
Developmental And Epileptic Encephalopathy 36 |
|
Macrocephaly, Hydrocephalus, Cerebral atrophy, Microcephaly |
OMIM:300884 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Cerebellar hypoplasia, Hypoplasia of the brainstem |
ORPHA:352682 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Small for gestational age, Optic atrophy, Lateral ventricle dilatation,... |
ORPHA:3078 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy |
OMIM:605388 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Incoordination, Short hallux, Long fingers, Gait ataxia, Deeply set eye, Oligomenorrhea, Clinodac... |
OMIM:620393 |
Warburg Micro Syndrome 1 |
|
Overlapping toe, Short stature, Cryptorchidism, Spastic diplegia, Deeply set eye, Facial hypertri... |
OMIM:600118 |
Leukodystrophy, Hypomyelinating, 14 |
|
Cerebellar atrophy, Cerebral atrophy, Microcephaly |
OMIM:617899 |
Aicardi-Goutieres Syndrome 4 |
|
Cerebellar atrophy, Hydrocephalus, Cerebral atrophy, CSF lymphocytic pleiocytosis, Progressive mi... |
OMIM:610333 |
Spinocerebellar Ataxia Type 30 |
|
Cerebellar vermis atrophy |
ORPHA:211017 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Metaphyseal chondrodysplasia, Abnormal pyramidal tract morphology, Babinski sign, Spastic... |
ORPHA:83629 |
Pontocerebellar Hypoplasia, Type 1E |
|
Cerebellar atrophy, Cerebellar hypoplasia, Hypoplasia of the pons |
OMIM:619303 |
Spastic Paraplegia 32, Autosomal Recessive |
|
Cerebellar atrophy, Cerebral atrophy |
OMIM:611252 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Forsythe-Wakeling Syndrome |
|
Growth delay, Deeply set eye, Short stature, Decreased body weight |
OMIM:613606 |
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency |
|
Cerebellar vermis atrophy, Brain atrophy |
ORPHA:363432 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Cerebral atrophy |
OMIM:610003 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem... |
OMIM:613153 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Failure to thrive, Sparse facial hair, Short stature, Sparse axillary hair, Small for gestational... |
OMIM:608154 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
Joubert Syndrome 30 |
|
Cerebellar atrophy, Ventriculomegaly, Molar tooth sign on MRI, Superior cerebellar dysplasia, Dan... |
OMIM:617622 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:2182 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Cerebellar atrophy |
OMIM:617643 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation |
OMIM:300982 |
Spastic Paraplegia 3, Autosomal Dominant |
|
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Babinski sign, Spastic p... |
OMIM:182600 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus, Secondary microcephaly, Cerebral atrophy, Microcephaly |
OMIM:615599 |
Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Absent pubic hair, Sparse hair, Absent eyebrow, Alopecia, Brittle scalp hair,... |
ORPHA:189 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy |
OMIM:619333 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Hypoplasia of the brainstem, Secondary microcephaly, Cerebellar hypoplasia, Macroc... |
OMIM:618174 |
2q37 monosomy |
|
Deeply set eye, Brachydactyly |
DECIPHER:44 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Neonatal death, Aplasia/Hypoplasia of the pyramidal tract |
OMIM:619602 |
Hemifacial Atrophy, Progressive |
|
Deeply set eye, Patchy alopecia, Ataxia, Poliosis |
OMIM:141300 |
Spinocerebellar Ataxia 2 |
|
Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Ataxia, Unsteady gait... |
OMIM:183090 |
Autosomal Dominant Spastic Paraplegia Type 8 |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, L... |
ORPHA:100989 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Wilson-Turner Syndrome |
|
Hypogonadotropic hypogonadism, Short stature, Tapered finger, Cryptorchidism, Small hand, Short f... |
ORPHA:3459 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Aggressive be... |
ORPHA:572798 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Oculogyric crisis, Inability to walk, Chorea, Deeply set eye, Dystonia, Ventriculomegaly |
OMIM:614254 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida, Macrocephaly |
ORPHA:1931 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Failure to thrive in infancy |
ORPHA:284417 |
Silent Sinus Syndrome |
|
Deeply set eye |
ORPHA:71276 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Cornelia De Lange Syndrome 5 |
|
Toe syndactyly, Short stature, Proximal placement of thumb, Hypertelorism, Highly arched eyebrow,... |
OMIM:300882 |
Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Optic atrophy, Retrocerebellar cyst, Lateral ventricle dilatation, Cerebellar hypo... |
OMIM:614219 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Autosomal Dominant Spastic Paraplegia Type 42 |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, L... |
ORPHA:171863 |
Autosomal Dominant Spastic Paraplegia Type 73 |
|
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Progressive spastic para... |
ORPHA:444099 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Cerebral atrophy |
OMIM:600143 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Lacrimation abnormality, Abnormal hair pattern, Highly arched eyebrow, Hy... |
ORPHA:1807 |
Chondroectodermal Dysplasia With Night Blindness |
|
Metaphyseal dysplasia, Short stature, Onychauxis, Abnormal hair morphology, Hyperconvex toenail, ... |
ORPHA:319195 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Degeneration of the lateral corticospinal tracts, Babinski sign, S... |
OMIM:604360 |
Peho-Like Syndrome |
|
Cerebellar atrophy, Progressive microcephaly, Ventriculomegaly |
OMIM:617507 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Cerebellar atrophy, Cerebellar cyst, Ventriculomegaly, Microcephaly |
ORPHA:370980 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Lateral ventricle dilata... |
OMIM:607485 |
Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Prominent fingertip pads, Deeply set eye |
OMIM:614113 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebella... |
OMIM:613155 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Hypoplasia ... |
ORPHA:101070 |
Pontocerebellar Hypoplasia, Type 2D |
|
Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Progressive microcephaly |
OMIM:613811 |
14Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Highly arched eyebrow, Hypertelorism, Melanocytic nevus, Deeply set eye, Toe clin... |
ORPHA:261120 |
Alexander Disease |
|
Increased CSF protein concentration, Hydrocephalus, Progressive macrocephaly, Abnormal dentate nu... |
OMIM:203450 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cerebellar atrophy |
OMIM:617133 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Bradykinesia, Lateral ventricle dilatation, Dilated third ventricle, Scissor gait |
ORPHA:363654 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Optic atrophy, Lateral ventricle dilatat... |
OMIM:613154 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Cerebellar atrophy, Microcephaly, Cerebral atrophy, Atrophy/Degeneration affecting the brainstem,... |
OMIM:617493 |
Pierpont Syndrome |
|
Decreased body weight, Short stature, Hypertelorism, Cryptorchidism, Short toe, Short foot, Deepl... |
OMIM:602342 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Microcephaly |
ORPHA:26 |
Septopreoptic Holoprosencephaly |
|
Short attention span, Abnormal midbrain morphology, Impulsivity, Hypoplasia of the pons, Dysphagi... |
ORPHA:280195 |
Keratosis Pilaris Atrophicans |
|
Absent eyelashes, Epiphora, Sparse eyebrow |
OMIM:604093 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation |
OMIM:616816 |
Pontocerebellar Hypoplasia, Type 6 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Microcephaly, Cerebral atrophy, Increased CSF l... |
OMIM:611523 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Hydrocephalus, Agenesis of corpus callosum, Midline brainstem cleft |
OMIM:617542 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Machado-Joseph Disease Type 3 |
|
Cerebellar atrophy, Abnormal lower motor neuron morphology, Dilated fourth ventricle, Neurogenic ... |
ORPHA:276244 |
Machado-Joseph Disease |
|
Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Ataxia, Dysphagia, Li... |
OMIM:109150 |
Malan Overgrowth Syndrome |
|
Optic disc pallor, Lateral ventricle dilatation, Hypoplasia of the brainstem, Episodic ataxia, Ve... |
ORPHA:420179 |
Narp Syndrome |
|
Ataxia, Short stature, Retinal pigment epithelial mottling, Babinski sign, Progressive gait ataxi... |
ORPHA:644 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
1p36 microdeletion syndrome |
|
Deeply set eye |
DECIPHER:18 |
Periventricular Nodular Heterotopia 8 |
|
Cerebellar vermis atrophy |
OMIM:618185 |
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Short stature, Tapered finger, Melanocytic nevus, Deeply set eye, Truncal obesity |
ORPHA:85280 |
Developmental And Epileptic Encephalopathy 5 |
|
Cerebellar atrophy, Microcephaly, Cerebral atrophy, Atrophy/Degeneration affecting the brainstem,... |
OMIM:613477 |
Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy |
ORPHA:217012 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Inability to walk, Lateral ventricle dilatation, Bruxism |
OMIM:615716 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Short stature, Tapered finger, Cryptorchidism,... |
OMIM:301900 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy |
OMIM:615945 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Cerebellar atrophy, Cerebral atrophy, Microcephaly |
OMIM:619090 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy |
ORPHA:423296 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy |
OMIM:117210 |
Gand Syndrome |
|
Long toe, Hypertelorism, Long fingers, Deeply set eye, Sparse hair |
OMIM:615074 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Spina bifida o... |
OMIM:618291 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Tremor, Rigidity, Premature gray... |
ORPHA:33445 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Spastic ataxia, Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Babinski... |
OMIM:607259 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Ataxia, Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Intrauterine gro... |
OMIM:616353 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Chorea, Impaired propriocept... |
ORPHA:98755 |
Spastic Paraplegia 4, Autosomal Dominant |
|
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Babinski sign, Spastic p... |
OMIM:182601 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Cerebellar atrophy, Microcephaly, Hydrocephalus, Cerebral atrophy, Increased CSF lactate, Colpoce... |
OMIM:616034 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Decreased nerve conduction velocity, Abnormal cerebellum morphology, Lateral v... |
ORPHA:565624 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Cerebellar atrophy, Progressive microcephaly, Dandy-Walker malformation |
ORPHA:438178 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia |
OMIM:616781 |
Fried Syndrome |
|
Abnormal cerebellum morphology, Hydrocephalus |
ORPHA:85335 |
Dystonia With Cerebellar Atrophy |
|
Cerebellar atrophy |
OMIM:611694 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Aggressive behavior, Dysplastic corpus callosum, Lateral ventricle ... |
ORPHA:488627 |
Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Coach Syndrome 2 |
|
Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:619111 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Deeply set eye, Unsteady gait, Gait ataxia |
OMIM:618158 |
Autosomal Dominant Spastic Paraplegia Type 37 |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, S... |
ORPHA:171612 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation, Optic nerve hypoplasia |
OMIM:618890 |
Progressive Hemifacial Atrophy |
|
Deeply set eye, Irregular hyperpigmentation, Heterochromia iridis |
ORPHA:1214 |
Developmental And Epileptic Encephalopathy 99 |
|
Cerebellar atrophy, Microcephaly, Frontotemporal cerebral atrophy, Atrophy/Degeneration affecting... |
OMIM:619606 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Melanin pigment aggregation in hair... |
OMIM:607624 |
1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Macrocephaly |
ORPHA:250994 |
Chung-Jansen Syndrome |
|
Tapered finger, Hypertelorism, Cryptorchidism, Synophrys, Obesity, Deeply set eye, Clinodactyly o... |
OMIM:617991 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Failure to thrive in infancy, Abnormal midbrain morphology, Inability to walk... |
ORPHA:356961 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Cerebellar atrophy |
OMIM:614706 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Ventriculom... |
ORPHA:168486 |
Machado-Joseph Disease Type 1 |
|
Cerebellar atrophy, Dilated fourth ventricle, Neurogenic bladder, Substantia nigra gliosis, Progr... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Cerebellar atrophy, Dilated fourth ventricle, Neurogenic bladder, Substantia nigra gliosis, Progr... |
ORPHA:276241 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus, Secondary microcephaly, Cerebral atrophy |
ORPHA:397951 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Cerebel... |
OMIM:615181 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity |
OMIM:606777 |
Cdkl5-Deficiency Disorder |
|
Deeply set eye, Gait disturbance, Difficulty walking, Impaired pain sensation |
ORPHA:505652 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Inability to walk, Deeply set eye, Ataxia, Gait ataxia |
OMIM:617915 |
Congenital Disorder Of Glycosylation, Type Iiz |
|
Diffuse cerebellar atrophy |
OMIM:620201 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly,... |
OMIM:225790 |
Galloway-Mowat Syndrome 5 |
|
Deeply set eye, Ataxia, Ventriculomegaly, Hypertelorism |
OMIM:617731 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Hy... |
OMIM:220220 |
Porphyria, Acute Hepatic |
|
Failure to thrive, Respiratory paralysis, Paralysis |
OMIM:612740 |
Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Lateral ventricle dilatation, Abnormal repetitive mannerisms, Oral-phary... |
ORPHA:208447 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly |
ORPHA:1496 |
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Cerebral atrophy, Cerebellar vermis atrophy, Dandy-Walker malformation, Microcephaly |
OMIM:616154 |
Masa Syndrome |
|
Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:2466 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Paresis of extensor muscles of the big toe, Paralysis |
OMIM:608634 |
Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme... |
ORPHA:251347 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Ataxia,... |
OMIM:610688 |
Spinocerebellar Ataxia, Autosomal Recessive 33 |
|
Dilated fourth ventricle, Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia |
OMIM:620208 |
Pierpont Syndrome |
|
Small for gestational age, Hypertelorism, Cryptorchidism, Short toe, Deeply set eye, Short finger... |
ORPHA:487825 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Microcephaly |
OMIM:614322 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:610951 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... |
ORPHA:71277 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Microcep... |
ORPHA:370959 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus, Microcephaly |
OMIM:619470 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Lateral ventricle dilatation |
OMIM:617668 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele, Chiari malformation |
ORPHA:261102 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Lacrimation abnormality, Hypogonadotropic hypogonadism, Hypertelorism |
ORPHA:1135 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Alexander Disease Type I |
|
Cerebellar atrophy, Hydrocephalus, Progressive macrocephaly |
ORPHA:363717 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Hypertelorism, Deeply set eye, Sparse hair, Intrauterine growth retardation, Failure to thrive, H... |
ORPHA:261304 |
Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Ataxia, Delayed early-childhood social milestone development, Dysmetria, Gait... |
ORPHA:208513 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Occipital encephalocele, Ataxia, Cerebellar hypoplasia |
OMIM:617562 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Lateral ventricle dilatation |
OMIM:618330 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Deeply set eye, High anterior hairline, Spasticity |
OMIM:618859 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI, Macrocephaly |
OMIM:618763 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Tremor, Postnatal growth retardation, Synophrys, Spastic diplegia, Obesity, Deeply set eye, Long ... |
ORPHA:480907 |
Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Ataxia, Hypertelorism, Oculomotor apraxia, Dysmetria, Spasticity, Deeply set eye, Spa... |
OMIM:618087 |
Proximal 16P11.2 Microduplication Syndrome |
|
Sparse eyelashes, Arachnodactyly, Short stature, Hypertelorism, Sparse eyebrow, Tremor, Deeply se... |
ORPHA:370079 |
Neurodevelopmental Disorder With Dystonia And Seizures |
|
Cerebellar atrophy, Cerebellar hypoplasia, Cerebral cortical atrophy, Ventriculomegaly |
OMIM:619922 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paresis of extensor muscles of the big toe, Paralysis |
OMIM:158590 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism, Short stature |
ORPHA:90023 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Ataxia, Spastic tetraparesis, Hemiplegia/hemiparesis, Deeply set eye, Spasticity |
ORPHA:833 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Neuronal loss in central nervous system, Agenesis of corpus callosum |
OMIM:610245 |
Developmental And Epileptic Encephalopathy 98 |
|
Cerebellar atrophy, Secondary microcephaly, Cerebral atrophy |
OMIM:619605 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short attention span, Failure to thrive, Overweight, Hydrocephalus, Head-banging, Chiari type I m... |
OMIM:619575 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Failure to thrive, Abnor... |
ORPHA:397715 |
Pettigrew Syndrome |
|
Ventriculomegaly, Cerebellar vermis hypoplasia, Aggressive behavior, Aqueductal stenosis, Hydroce... |
OMIM:304340 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Small hand, Deeply set eye, Small ... |
ORPHA:163971 |
Pontocerebellar Hypoplasia, Type 3 |
|
Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Hypoplasia of the brainstem, Cerebe... |
OMIM:608027 |
Distal Deletion 10Q |
|
Failure to thrive, Ataxia, Aggressive behavior, Unsteady gait, Facial diplegia, Lateral ventricle... |
ORPHA:96148 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Freeman-Sheldon Syndrome |
|
Short stature, Camptodactyly of finger, Hypertelorism, Cryptorchidism, Ulnar deviation of finger,... |
ORPHA:2053 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Pseudo-Torch Syndrome 2 |
|
Lethargy, Lateral ventricle dilatation, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:617397 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hallux valgus, Deeply set eye, Synophrys, Short stature |
OMIM:615541 |
Congenital Disorder Of Glycosylation, Type Iii |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Cerebral atrophy, Microcephaly |
OMIM:613612 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Broad hallux, Hypertelorism, Abnormal hair whorl, Synophrys, 2-3 toe syndactyly, Spotty hypopigme... |
OMIM:300860 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia |
OMIM:618876 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Hypertelorism, Premature graying of hair, Deeply s... |
ORPHA:280679 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Optic nerve dysplasia, Obesity, Lateral ventricle dilata... |
OMIM:617296 |
Autosomal Spastic Paraplegia Type 30 |
|
Diffuse cerebellar atrophy |
ORPHA:101010 |
X-Linked Intellectual Disability, Schimke Type |
|
Short stature, Failure to thrive in infancy, Choreoathetosis, Deeply set eye, Spasticity |
ORPHA:85285 |
Autosomal Dominant Spastic Paraplegia Type 41 |
|
Lower limb spasticity, Spastic gait, Progressive spastic paraplegia, Degeneration of the lateral ... |
ORPHA:320355 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hallux valgus, Incoordination, Ataxia, Short stature, Small for gestational age, Failure to thriv... |
OMIM:614104 |
L1 Syndrome |
|
Aganglionic megacolon, Aqueductal stenosis, Hydrocephalus, Depression, Gait disturbance |
ORPHA:275543 |
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
Ventriculomegaly, Microcephaly, Cerebellar vermis atrophy, Cerebral atrophy, Progressive microcep... |
OMIM:615760 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Frontal balding, Metatarsus adductus, Early balding, Sho... |
ORPHA:3041 |
X-Linked Complicated Spastic Paraplegia Type 1 |
|
Mental deterioration, Ataxia, Cognitive impairment |
ORPHA:306617 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Growth delay, Athetosis, Spasticity, Hypopigmentation of the skin |
OMIM:257800 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Cerebellar atrophy, Agenesis of corpus callosum |
OMIM:618324 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Lower limb spasticity, Ataxia, Short stature, Absent pubertal growth spurt, Hypertelorism, Obesit... |
ORPHA:464282 |
Holoprosencephaly 14 |
|
Cerebellar atrophy, Microcephaly, Aqueductal stenosis, Alobar holoprosencephaly, Hydrocephalus, P... |
OMIM:619895 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy |
OMIM:141500 |
Spinocerebellar Ataxia 43 |
|
Cerebellar vermis atrophy |
OMIM:617018 |
Autosomal Dominant Spastic Paraplegia Type 12 |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, L... |
ORPHA:100993 |
Spinocerebellar Ataxia 38 |
|
Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem |
OMIM:615957 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Macrocephaly |
ORPHA:380 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Lissencephaly 6 With Microcephaly |
|
Cerebellar atrophy, Partial agenesis of the corpus callosum, Ventriculomegaly, Microcephaly |
OMIM:616212 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Sulfite Oxidase Deficiency, Isolated |
|
Ataxia, Fine hair, Choreoathetosis, Deeply set eye, Hypertonia, Hemiplegia |
OMIM:272300 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology, Spastic gait, Dysphagia |
OMIM:611637 |
Intellectual Developmental Disorder, Autosomal Recessive 45 |
|
Highly arched eyebrow, Hypertelorism, Synophrys, Deeply set eye, Thick eyebrow |
OMIM:615979 |
Cog5-Cdg |
|
Cerebellar atrophy, Neurogenic bladder, Truncal ataxia, Lateral ventricle dilatation, Atrophy/Deg... |
ORPHA:263487 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Ventriculomegaly, Cerebellar dysplasia |
OMIM:616531 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Cerebellar atrophy, Secondary microcephaly, Ventriculomegaly |
OMIM:618241 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Ataxia, Postural tremor, Hypogonadotropic hypogonadism, Short stature, Babinski sign, Dysmetria, ... |
ORPHA:447896 |
Joubert Syndrome 10 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Macrocephaly |
OMIM:300804 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus, Macrocephaly |
OMIM:300886 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Cerebral atrophy, Cerebellar hemisphere hypoplasia, Primary microcephaly, Age... |
OMIM:615095 |
O'Donnell-Luria-Rodan Syndrome |
|
Cryptorchidism, Deeply set eye, Tapered finger |
OMIM:618512 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Deeply set eye, Clinodactyly, Failure to thrive |
OMIM:300934 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI, Ventriculomegaly, Truncal ataxia |
OMIM:617761 |
Den Hoed-De Boer-Voisin Syndrome |
|
Short attention span, Ventriculomegaly, Ataxia, Overweight, Inability to walk, Obesity, Lateral v... |
OMIM:619229 |
Christianson Syndrome |
|
Truncal ataxia, Gait ataxia, Deeply set eye, Dystonia, Ventriculomegaly |
ORPHA:85278 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Ataxia, Aggressive behavior, Gait apraxia, Dysmetria, Depression, Gait ataxia... |
OMIM:615157 |
Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Lacrimation abnormality, Abnormal eyelash morphology, Cryptorchidism, Low post... |
ORPHA:1252 |
Acrocraniofacial Dysostosis |
|
Abnormal fingernail morphology, Lacrimation abnormality, Short stature, Tapered finger, Hypertelo... |
ORPHA:949 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ataxia, 1-4 toe syndactyly, ... |
OMIM:617201 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Glutaric Acidemia I |
|
Choreoathetosis, Hydrocephalus, Failure to thrive, Lateral ventricle dilatation |
OMIM:231670 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Postnatal growth retardation, Short foot, Deeply set eye, Growth delay, Clinodactyly of the 5th f... |
ORPHA:576283 |
Alazami Syndrome |
|
Deeply set eye, Severe short stature, Retractile testis, Decreased body weight |
OMIM:615071 |
Williams-Beuren Region Duplication Syndrome |
|
Speech apraxia, Short stature, Small for gestational age, Cryptorchidism, Hydrocephalus, Deeply s... |
OMIM:609757 |
Dystonia 23 |
|
Cerebellar atrophy, Cerebral cortical atrophy |
OMIM:614860 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Cerebellar cyst, Cerebellar vermis hypoplasia, Cerebellar dysplasia |
OMIM:615960 |
Joubert Syndrome 4 |
|
Cerebellar vermis hypoplasia, Ataxia, Molar tooth sign on MRI, Elongated superior cerebellar pedu... |
OMIM:609583 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death, Deeply set eye |
OMIM:612138 |
Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem |
OMIM:616230 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Deeply set eye, Short stature, Highly arched eyebrow, Intrauterine growth retardation |
OMIM:611867 |
8P23.1 Duplication Syndrome |
|
Deeply set eye, Toe syndactyly, Highly arched eyebrow, Hypertelorism |
ORPHA:251076 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Short stature, Overlapping toe, Highly arched eyebrow, Tremor, Deeply set eye |
ORPHA:457365 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... |
ORPHA:66624 |
Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Abnormal cerebellum morphology, Ataxia, Large for gestational age |
OMIM:617757 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Aggressive behavior, Large for gestational age, Dysplastic corpus callosum, Self-injurious behavi... |
ORPHA:544488 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Short stature |
ORPHA:1355 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Lacrimation abnormality, Synophrys, Myelom... |
ORPHA:3440 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Deeply set eye, Obesity, Progressive spastic paraplegia |
ORPHA:521390 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Spastic gait, Gait imbalance, Dysphagia |
ORPHA:247604 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Ag... |
ORPHA:250972 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Cerebellar atrophy, Cerebellar hypoplasia, Atrophy/Degeneration affecting the brainstem |
OMIM:619971 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Tremor, Deeply set eye, Gait disturbance, Abnormality of pain sensation |
ORPHA:544254 |
Joubert Syndrome 37 |
|
Short stature, Postaxial polydactyly, Hypertelorism, Cryptorchidism, Oculomotor apraxia, Obesity,... |
OMIM:619185 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Ritscher-Schinzel Syndrome 4 |
|
Curly hair, Ulnar deviation of the hand, Ataxia, Short stature, Hypertelorism, Tapered finger, Cr... |
OMIM:619435 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Choreoacanthocytosis |
|
Chorea, Compulsive behaviors, Loss of ambulation, Decreased amplitude of sensory action potential... |
ORPHA:2388 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Cerebellar atrophy, Secondary microcephaly, Atrophy/Degeneration affecting the brainstem |
OMIM:617954 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Ventriculomegaly |
ORPHA:248111 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Failure to thrive in infancy, Highly arched eyebrow, Hypertelorism, Synophrys,... |
ORPHA:313781 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Autosomal Recessive Spastic Paraplegia Type 74 |
|
Cerebellar atrophy |
ORPHA:468661 |
Mosaic Variegated Aneuploidy Syndrome 3 |
|
Few cafe-au-lait spots, Deeply set eye, Growth delay, Short stature |
OMIM:617598 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Deeply set eye, Ventriculomegaly, Dystonia |
OMIM:617268 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Small for gestational age |
OMIM:619278 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha... |
OMIM:611134 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Abnormal... |
OMIM:618914 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy |
ORPHA:98769 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Self-injurious behavior, Hyperactivity, Lateral ventricle dilatation, Aggressive behavior |
OMIM:620075 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Microcephaly, Hydrocephalus, Chiari type I malformation, Hypothalamic ha... |
OMIM:241800 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Irritability, Lateral ventricle dilatation, Agitation, Cognitive impairment, Dysphagia |
ORPHA:2148 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor... |
OMIM:215470 |
6P22 Microdeletion Syndrome |
|
Finger syndactyly, Hydrocephalus, Hypotelorism, Deeply set eye, Clinodactyly |
ORPHA:251046 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Deeply set eye, Failure to thrive, Hypertonia |
OMIM:617228 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Brachydactyly, Thick hair, Synophrys, Deeply set eye, Intention tremor, Long eyelashes, Horizonta... |
OMIM:618381 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Diffuse cerebral atrophy, Diffuse cerebellar atrophy, Microcephaly |
ORPHA:352596 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Short attention span, Obesity, Attention deficit hyperactivity disorder, Compulsive behaviors, Ab... |
ORPHA:444002 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy |
OMIM:616187 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Cerebellar atrophy, Corpus callosum atrophy, Ventriculomegaly |
OMIM:616680 |
Xeroderma Pigmentosum, Complementation Group F |
|
Ataxia, Short stature, Tremor, Deeply set eye, Numerous pigmented freckles, Decreased body weight... |
OMIM:278760 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Melanin pigment aggregation... |
OMIM:256710 |
Leukodystrophy, Hypomyelinating, 18 |
|
Cerebellar atrophy, Secondary microcephaly, Atrophy/Degeneration affecting the brainstem |
OMIM:618404 |
Epithelial Recurrent Erosion Dystrophy |
|
Epiphora |
OMIM:122400 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Macrocephaly |
ORPHA:83473 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal brainstem mo... |
ORPHA:163961 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cerebellar atrophy, Inferior cerebellar vermis hypoplasia, Cerebellar hypoplasia, Hypoplasia of t... |
OMIM:224050 |
Autosomal Dominant Spastic Paraplegia Type 38 |
|
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Babinski sign, Spastic g... |
ORPHA:171617 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Short stature, Small hand, Obesity, Shor... |
ORPHA:177910 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Aganglionic megacolon, Optic nerve hypopl... |
ORPHA:171680 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Vocal cord paralysis |
OMIM:607641 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Short stature, Hydrocephalus, Clumsiness, Deeply set eye, Prominent fingertip pads |
OMIM:300558 |
Glutamine Deficiency, Congenital |
|
Subependymal cysts, Lateral ventricle dilatation |
OMIM:610015 |
15Q11.2 Microdeletion Syndrome |
|
Dilated fourth ventricle, Short attention span, Ataxia, Self-injurious behavior, Attention defici... |
ORPHA:261183 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Pontocerebellar Hypoplasia, Type 2B |
|
Cerebellar atrophy, Ventriculomegaly, Cerebellar vermis hypoplasia, Microcephaly, Cerebral atroph... |
OMIM:612389 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Cerebellar atrophy, Ventriculomegaly, Microcephaly |
OMIM:611182 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome |
|
Short stature, Cryptorchidism, Synophrys, 2-3 toe syndactyly, Deeply set eye, Long eyelashes, Thi... |
ORPHA:502434 |
Desanto-Shinawi Syndrome |
|
Hypertelorism, Synophrys, Hirsutism, Deeply set eye, Thick eyebrow |
OMIM:616708 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Lateral ventricle dilatation |
OMIM:600721 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Aggressive behavior, Unsteady gait, Lateral ventricle dilatation, Low frustration toleran... |
ORPHA:457279 |
Corneal Dystrophy, Meesmann, 2 |
|
Epiphora |
OMIM:618767 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis |
OMIM:105500 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Short stature, Hypertelorism, Postnatal growth retardation, Abnor... |
OMIM:300845 |
Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Rocker bottom foot, Coxa valga, Cryptorchidism, Deeply set eye, Second... |
OMIM:214150 |
Leukodystrophy, Hypomyelinating, 17 |
|
Cerebellar atrophy, Cerebral atrophy, Microcephaly |
OMIM:618006 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Sandal gap, Short stature, Tapered finger, Hypertelorism, Small hand, Obesity, Short foot, Deeply... |
OMIM:618089 |
Mucolipidosis Iv |
|
Cerebellar atrophy, Dysplastic corpus callosum, Microcephaly |
OMIM:252650 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Short stature, Hypertelorism, Hypotelorism, Growth delay, Deeply set eye, Camptodactyly, Intraute... |
OMIM:613604 |
Chiari Malformation Type Ii |
|
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Chiari malformation, Agenesis... |
OMIM:207950 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Small for gestational age, Camptodactyly of finger, Rocker bottom foot, Growth delay, Deeply set ... |
OMIM:610756 |
Paroxysmal Extreme Pain Disorder |
|
Lacrimation abnormality |
OMIM:167400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Agenesis of corp... |
OMIM:615249 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
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Toe syndactyly, 2-3 toe syndactyly, Shortening of all distal phalanges of the fingers, Growth del... |
OMIM:616809 |
Neurodevelopmental Disorder With Absent Language And Variable Seizures |
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Deeply set eye, Broad-based gait, Proptosis, Ventriculomegaly |
OMIM:618707 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Bachmann-Bupp Syndrome |
|
Absent eyebrow, Sparse scalp hair, Lower limb spasticity, Sparse eyelashes, Hypertelorism, Large ... |
OMIM:619075 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Microcephaly |
OMIM:607317 |
Harel-Yoon Syndrome |
|
Inability to walk, Deeply set eye, Ataxia, Dystonia |
OMIM:617183 |
1Q41Q42 Microdeletion Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Hypotelorism, Growth delay, Deeply... |
ORPHA:250999 |
Deafness, Dystonia, And Cerebral Hypomyelination |
|
Cerebellar atrophy, Cerebral atrophy, Microcephaly |
OMIM:300475 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Cerebellar atrophy, Microcephaly, Corpus callosum atrophy, Cerebral atrophy, Increased CSF lactat... |
OMIM:619272 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Ataxia, Short stature, Avascular necrosis of the capital femoral epiphysis, Reticulated... |
OMIM:613990 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
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Talipes equinovarus, Paralysis |
OMIM:613710 |
Cog8-Cdg |
|
Cerebellar atrophy, Progressive microcephaly, Ventriculomegaly, Atrophy/Degeneration affecting th... |
ORPHA:95428 |
Corneal Dystrophy, Meesmann, 1 |
|
Epiphora |
OMIM:122100 |
Radio-Tartaglia Syndrome |
|
Thick eyebrow, Ataxia, Highly arched eyebrow, Hypertelorism, Tapered finger, Long eyebrows, Synop... |
OMIM:619312 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Lacrimation abnormality |
ORPHA:1562 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Abnormal hair pattern, Synophrys, Genu valgum, Low posterior hairline, Deeply set eye, Hypogonadi... |
ORPHA:2983 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Deeply set eye, Spasticity, Short stature, Pigmentary retinopathy |
OMIM:619059 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Short stature, Albinism |
ORPHA:2786 |
Al-Raqad Syndrome |
|
Sandal gap, Gait ataxia, Deeply set eye, Hypopigmentation of the skin, Brachydactyly |
OMIM:616459 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Borjeson-Forssman-Lehmann Syndrome |
|
Short stature, Tapered finger, Cryptorchidism, Short toe, Deeply set eye, Truncal obesity, Hypogo... |
ORPHA:127 |
Cog7-Cdg |
|
Cerebellar atrophy, Subcortical cerebral atrophy, Brain atrophy, Primary microcephaly, Progressiv... |
ORPHA:79333 |
Infantile Cerebellar-Retinal Degeneration |
|
Cerebellar atrophy, Cerebral cortical atrophy, Progressive microcephaly, Microcephaly |
OMIM:614559 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Deeply set eye, Synophrys, Long eyelashes, Failure to thrive in infancy |
OMIM:619064 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration, Microcephaly |
ORPHA:438134 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Short stature, Highly arched eyebrow, Tremor, Deeply set eye, Decreased body weight |
OMIM:618342 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Tapered finger, Hypertelorism, Small hand, Hypotelorism, Low posterior hairline, Deeply set eye, ... |
OMIM:618672 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Cerebral atrophy, Increased CSF lacta... |
OMIM:614946 |
Warburg Micro Syndrome 4 |
|
Short stature, Cryptorchidism, Babinski sign, Low anterior hairline, Spastic tetraplegia, Deeply ... |
OMIM:615663 |
Megalencephaly |
|
Macroorchidism, Deeply set eye, Truncal obesity, Genu valgum |
ORPHA:2477 |
Polyglucosan Body Neuropathy, Adult Form |
|
Orthostatic hypotension, Neurogenic bladder, Distal sensory impairment, Gait disturbance, Paresth... |
OMIM:263570 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Lateral ventricle dilatation, Small for gestational age, Dysphagia |
OMIM:619847 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy |
OMIM:302500 |
L-2-Hydroxyglutaric Aciduria |
|
Cerebellar atrophy, Corpus callosum atrophy, Global brain atrophy |
OMIM:236792 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Lacrimation abnormality |
ORPHA:1484 |
Leukodystrophy, Hypomyelinating, 21 |
|
Cerebellar atrophy, Corpus callosum atrophy, Microcephaly |
OMIM:619310 |
Central Precocious Puberty In Male |
|
Hydrocephalus, Hypothalamic hamartoma |
ORPHA:649929 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum, Aggressive be... |
OMIM:619244 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
|
Cerebellar atrophy, Secondary microcephaly |
OMIM:617086 |
Spinocerebellar Ataxia Type 2 |
|
Abnormal substantia nigra morphology, Cerebral cortical atrophy, Cerebellar Purkinje layer atroph... |
ORPHA:98756 |
Craniofacial Dyssynostosis With Short Stature |
|
Chiari type I malformation, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:218350 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Macrocephaly |
OMIM:109120 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Short attention span, Hydrocephalus, Lateral ventricle dilatation, Diminished ability to concentr... |
OMIM:612863 |
Houge-Janssens Syndrome 1 |
|
Hypertelorism, Hydrocephalus, Gait ataxia, Deeply set eye, Ventriculomegaly |
OMIM:616355 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Small for gestational age, Supernumerary nipple, Cryptorchidism, Deeply set eye, Thin eyebrow, In... |
OMIM:617635 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Aggressive behavior, Chorea, Depression, Impaired social interactions... |
OMIM:619738 |
Adrenomyeloneuropathy |
|
Female sexual dysfunction, Frontal balding, Atrophy/Degeneration involving the corticospinal trac... |
ORPHA:139399 |
Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Arachnodactyly, Short stature, Absent phalangeal crease, Dee... |
OMIM:108145 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Hemangioblastoma |
|
Cerebellar edema, Hydrocephalus, Cerebellar hemangioblastoma |
ORPHA:252054 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618577 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation |
OMIM:614105 |
Spinocerebellar Ataxia Type 25 |
|
Diffuse cerebellar atrophy, Abnormal cerebellar cortex morphology |
ORPHA:101111 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Stillbirth |
OMIM:276950 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Cerebellar atrophy, Cerebral atrophy, Microcephaly |
ORPHA:320385 |
Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Inability to walk, Chorea, Deeply set eye, Dystonia, Ventriculomegaly |
OMIM:618004 |
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Cerebellar atrophy, CSF pleocytosis, Increased CSF lactate |
OMIM:618384 |
Gordon Holmes Syndrome |
|
Cerebellar atrophy, Cerebral atrophy |
OMIM:212840 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Cerebral atrophy |
OMIM:616521 |
Keratoendotheliitis Fugax Hereditaria |
|
Epiphora |
OMIM:148200 |
Spinocerebellar Ataxia Type 26 |
|
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... |
ORPHA:101112 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Cerebellar atrophy, Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Failure to thrive... |
OMIM:611209 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Ventriculomegaly, Microcephaly |
OMIM:612936 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Failure to thrive, Ataxia, Short stature, Tremor, Premature graying of ... |
ORPHA:100 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Progressive macrocephaly, Ventriculomegaly |
OMIM:602501 |
Developmental And Epileptic Encephalopathy 44 |
|
Cerebellar atrophy, Secondary microcephaly, Cerebral atrophy |
OMIM:617132 |
Bainbridge-Ropers Syndrome |
|
Failure to thrive, Inability to walk, Self-injurious behavior, Lateral ventricle dilatation, Infe... |
OMIM:615485 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Ventriculomegaly, Microcephaly |
ORPHA:858 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Deep-set nails, Overlapping toe, Short stature, Hypertelorism, Fibular hypoplasia, Deeply set eye... |
OMIM:201170 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Iron accumulation in substantia nigra, Cerebral atrophy |
ORPHA:329284 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cerebellar atrophy, Cerebral atrophy, Ventriculomegaly |
OMIM:619797 |
Smith-Magenis Syndrome |
|
Toe syndactyly, Short stature, Failure to thrive in infancy, Hypertelorism, Synophrys, Obesity, D... |
ORPHA:819 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Brachydactyly, Short stature, Progressive spastic paraplegia, Cryptorchidism, Babinski sign, Shor... |
OMIM:300534 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Abnormal eyelash morphology, Hypop... |
ORPHA:2885 |
Joubert Syndrome 14 |
|
Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus... |
OMIM:614424 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Macrocephaly |
OMIM:175700 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Cryptorchidism, Synophrys, 2-3 toe syndactyly, Growth delay, Deeply set eye, Hypogonadism, Talipe... |
ORPHA:3306 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Appendicular spasticity, Cerebral palsy, Sparse eyelashes, Rocker bottom foot, Short stature, Tap... |
OMIM:620070 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus, Macrocephaly |
ORPHA:1516 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Cerebellar hypoplasia |
OMIM:615768 |
Galloway-Mowat Syndrome 9 |
|
Cerebellar atrophy, Microcephaly, Secondary microcephaly, Cerebral cortical atrophy, Ventriculome... |
OMIM:619603 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Cerebellar atrophy, Cerebellar vermis atrophy |
ORPHA:284332 |
Lipoyltransferase 1 Deficiency |
|
Cerebellar atrophy, Ventriculomegaly |
OMIM:616299 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypertelorism, Sparse eyebrow, Widow's peak, Clinodactyly of the 5th finger, Epiphora |
OMIM:167730 |
Congenital Disorder Of Glycosylation, Type Iin |
|
Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy |
OMIM:616721 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation |
ORPHA:85290 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Failure to thrive in infancy, Tapered finger, Sparse eyebrow, Hypertelorism, Chorea, Hemiparesis,... |
OMIM:618829 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Short stature, Deeply set eye, Clinodactyly of the 5th finger, Spasticity, Limb hypertonia |
OMIM:618480 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Cerebellar atrophy, Cerebral atrophy |
OMIM:619690 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Ataxia, Synophrys, Fine hair, Growth delay, Deeply set eye, Head tremor |
OMIM:619428 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Ataxia, Aggressive behavior, Hydrocephalus, Optic atrophy, Irritability, Self-injurious behavior,... |
OMIM:619833 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Highly arched eyebrow, Synophrys, Low anterior hairline, Deeply set eye, Hypertonia, Long eyelash... |
OMIM:618828 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Microcephaly, Hydrocephalus, Partial absence of cerebellar vermis, Hypoplasia of t... |
OMIM:613150 |
Aicardi-Goutieres Syndrome 9 |
|
Optic atrophy, Weight loss, Irritability, Lateral ventricle dilatation, Failure to thrive, Self-m... |
OMIM:619487 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Cerebellar hypoplasia, Aplasia of the inferio... |
OMIM:610185 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Short stature, Rocker bottom foot, Camptodactyly of finger, Failure to thrive in infancy, Adducte... |
OMIM:610758 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Cerebellar atrophy, Microcephaly, Corpus callosum atrophy, Brain atrophy, Cerebral cortical atrophy |
ORPHA:369939 |
Spinocerebellar Ataxia Type 43 |
|
Cerebellar vermis atrophy |
ORPHA:497764 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Cerebellar vermis atrophy |
OMIM:616291 |
Lethal Congenital Contracture Syndrome 7 |
|
Cerebellar atrophy, Cerebral atrophy |
OMIM:616286 |
Insulin-Like Growth Factor I, Resistance To |
|
Sparse scalp hair, Severe short stature, Sandal gap, Short stature, Highly arched eyebrow, Synoph... |
OMIM:270450 |
Luscan-Lumish Syndrome |
|
Shyness, Aggressive behavior, Obesity, Chiari malformation, Syringomyelia, Polyphagia, Ventriculo... |
OMIM:616831 |
Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
Chopra-Amiel-Gordon Syndrome |
|
Postnatal growth retardation, Deeply set eye, High anterior hairline, Short stature |
OMIM:619504 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... |
ORPHA:168782 |
Joubert Syndrome 16 |
|
Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:614465 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Cerebral atrophy, Progressive microcephaly |
ORPHA:521406 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Ataxia, Brainstem... |
OMIM:608091 |
Pelviscapular Dysplasia |
|
Short femur, Short stature, Hypertelorism, Humeroradial synostosis, Low posterior hairline, Deepl... |
ORPHA:93333 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Ataxia, Decreased body weight, Corticospinal tract hypoplasia, Agenesis of corpus callosum, Intra... |
ORPHA:255138 |
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Arachnodactyly, Deviation of finger, Deeply set eye, Bilateral talipes equinovarus, Congenital fi... |
ORPHA:1154 |
Leukodystrophy, Hypomyelinating, 12 |
|
Cerebellar atrophy, Secondary microcephaly, Ventriculomegaly, Microcephaly |
OMIM:616683 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Cerebellar atrophy, Cerebellar cyst, Ventriculomegaly, Microcephaly |
OMIM:606612 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Brittle hair, Short stature, Small for gestational age, Failure to thrive in infancy, Poor coordi... |
OMIM:618891 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Molar toot... |
OMIM:614175 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Colpocephaly, Macrocephaly, Agenesis of... |
OMIM:615219 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 |
|
Broad hallux, Abnormal pyramidal sign, Deeply set eye, Athetosis, Oculomotor apraxia, Failure to ... |
OMIM:614388 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Cerebellar hypoplasia, Macrocephaly, Dandy-Walker malformation, Ventriculomegaly |
OMIM:217090 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Deeply set eye, Hypotelorism |
ORPHA:276422 |
Gillespie Syndrome |
|
Cerebellar atrophy, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:206700 |
Luo-Schoch-Yamamoto Syndrome |
|
Highly arched eyebrow, Hypertelorism, Small hand, Short foot, Deeply set eye, Long eyelashes, Int... |
OMIM:619460 |
Developmental And Epileptic Encephalopathy 84 |
|
Chorea, Opisthotonus, Deeply set eye, Dystonia, Ventriculomegaly |
OMIM:618792 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Cerebellar atrophy, Cerebral cortical atrophy, Cerebellar vermis atrophy |
ORPHA:512260 |
Hereditary Methemoglobinemia |
|
Cerebellar atrophy, Microcephaly, Temporal cortical atrophy, Frontal cortical atrophy, Global bra... |
ORPHA:621 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Microcephaly, Cerebral atroph... |
OMIM:610127 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Cerebellar atrophy, Microcephaly, Increased CSF lactate, Brain atrophy, Progressive microcephaly |
OMIM:618226 |
Prader-Willi Syndrome Due To Translocation |
|
Obesity, Head-banging, Lateral ventricle dilatation, Abnormal temper tantrums, Skin-picking, Comp... |
ORPHA:177907 |
Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI, Agenesis of corpus callosum, Brain atrophy, Macrocephaly |
OMIM:607131 |
Nasu-Hakola Disease |
|
Hydrocephalus, Cerebral cortical atrophy, Ventriculomegaly |
ORPHA:2770 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Cerebellar atrophy, Cerebral atrophy |
ORPHA:496689 |
Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Short stature, Highly arched eyebrow, Babinski sign, Low anterior hairline, Low posterior hairlin... |
OMIM:615802 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Cerebral atrophy, Secondary microcephaly, Neurodegeneration, Cerebral cortica... |
OMIM:617672 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Cerebellar atrophy |
OMIM:617207 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly |
OMIM:614870 |
Angelman Syndrome |
|
Ataxia, Blue irides, Limb tremor, Obesity, Clumsiness, Deeply set eye, Progressive gait ataxia, F... |
OMIM:105830 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Increased CSF lactate |
ORPHA:139485 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Obesity, Growth delay, Delayed puberty, Red hair, Failure to thrive, Hypopigmentation of the skin... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Obesity, Growth delay, Delayed puberty, Red hair, Failure to thrive, Hypopigmentation of the skin... |
ORPHA:71526 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Dysplastic corpus callosum, Agenesis of corpus callosum, Microcephaly |
OMIM:614833 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Dysplastic corpus callosum, Inabi... |
ORPHA:357058 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, Ataxia, White eyebrow, Blue irides, Hypopigmented skin patches, Premature grayin... |
OMIM:277580 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem |
OMIM:619862 |
Aminoacylase 1 Deficiency |
|
Cerebellar atrophy, Cerebral cortical atrophy, Cerebral atrophy |
OMIM:609924 |
Joubert Syndrome 1 |
|
Enlarged fossa interpeduncularis, Hyperactivity, Agenesis of cerebellar vermis, Cerebellar vermis... |
OMIM:213300 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Short stature, Sparse hair, Failure to thrive, Fragile nails, Decreased lacrimation |
OMIM:242150 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Long toe, Lower limb spasticity, Hypertelorism, Long fingers, Fine hair, Deeply set eye, Broad di... |
ORPHA:363686 |
Primary Lateral Sclerosis, Juvenile |
|
Decreased compound muscle action potential amplitude, Pseudobulbar paralysis, Dysphagia, Abnormal... |
OMIM:606353 |
Spinocerebellar Ataxia Type 37 |
|
Diffuse cerebellar atrophy, Cerebellar vermis atrophy |
ORPHA:363710 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Cerebellar atrophy, Cerebellar cortical atrophy, Cerebral cortical atrophy, Atrophy/Degeneration ... |
OMIM:271245 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Cerebellar atrophy, Cerebral cortical atrophy |
OMIM:619425 |
Johanson-Blizzard Syndrome |
|
Alopecia, Short stature, Lacrimation abnormality, Abnormal hair pattern, Intrauterine growth reta... |
ORPHA:2315 |
12Q14 Microdeletion Syndrome |
|
Hyperpigmentation of the skin, Short stature, Hypertelorism, Tremor, Synophrys, Deeply set eye, C... |
ORPHA:94063 |
Krabbe Disease |
|
Neurodegeneration, Hydrocephalus, Increased CSF protein concentration, Diffuse cerebral atrophy |
OMIM:245200 |
Pelizaeus-Merzbacher Disease In Female Carriers |
|
Lower limb spasticity, Hypertelorism, Babinski sign, Growth delay, Deeply set eye, Spastic parapa... |
ORPHA:280229 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Short stature, Gait ataxia, Hypotelorism, Deeply set eye, Spina bifida occulta, Abnormal digit mo... |
OMIM:268850 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Cerebellar atrophy |
OMIM:618879 |
Joubert Syndrome 18 |
|
Molar tooth sign on MRI, Occipital encephalocele, Agenesis of cerebellar vermis, Agenesis of corp... |
OMIM:614815 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Diffuse cerebral atrophy |
ORPHA:330050 |
Hydroa Vacciniforme |
|
Epiphora |
ORPHA:330058 |
Glycogen Storage Disease Iii |
|
Deeply set eye, Short stature |
OMIM:232400 |
Hogue-Janssen Syndrome 2 |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly |
OMIM:616362 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Short stature, Clonus, Spastic tetraparesis, Hypertelorism, Babinski sign, Deeply set eye, Severe... |
ORPHA:423479 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abno... |
ORPHA:1020 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Cerebral cortical atrophy, Increased neuronal autofluorescent lipopigment |
OMIM:256731 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis, Paralysis |
OMIM:300857 |
Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Short stature, Highly arched eyebrow, Short toe, Obesi... |
OMIM:600430 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Short stature, Abnormality of skin pigmentation, Nail dystrophy, Intr... |
OMIM:620040 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Microcephaly, Axonal degeneration, Increased CSF lactate, Subependymal cysts,... |
OMIM:616811 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Painless fractures due to injury, Deeply set eye, Pain insensitivity, Impaired temperature sensation |
ORPHA:64752 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Cerebellar atrophy, Elevated CSF 4-hydroxybutyric acid concentration, Elevated CSF gamma-aminobut... |
OMIM:271980 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Alopecia, Brachydactyly, Rocker bottom foot, Proximal placement of thumb, Grow... |
OMIM:619762 |
Amyotrophy, Hereditary Neuralgic |
|
Deeply set eye, Short stature, Hypotelorism |
OMIM:162100 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Hypertelorism, Cryptorchidism, Obesity, Patellar hypoplasia, Deeply set ... |
ORPHA:464288 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Cerebellar atrophy |
OMIM:615705 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Premature ovarian insufficiency, Short stature, Synophrys, 2-3 toe syndactyly, Deeply set eye |
ORPHA:391307 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Overlapping toe, Highly arched eyebrow, Hypertelorism, Long fingers, Synophrys, Cryptor... |
OMIM:618316 |
Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Cerebral cortical atrophy |
OMIM:604326 |
Muscle-Eye-Brain Disease |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Peho Syndrome |
|
Cerebellar atrophy, Microcephaly, Hydrocephalus, Biparietal narrowing, Atrophy/Degeneration affec... |
ORPHA:2836 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Hallux valgus, Lower limb spasticity, Small for gestational age, Long hallux, Deeply set eye, Cli... |
OMIM:620194 |
Developmental And Epileptic Encephalopathy 37 |
|
Cerebellar atrophy, Cerebral atrophy |
OMIM:616981 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Microcephaly, Hypoplasia of the pons, Hydrocephalus, Chiari type I malformation, Postnatal macroc... |
OMIM:620157 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Camptodactyly of finger, Deeply set eye, Holoprosencephaly, Hydranencephaly, Intrauterine growth ... |
ORPHA:2570 |
5Q14.3 Microdeletion Syndrome |
|
Deeply set eye, Ventriculomegaly |
ORPHA:228384 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Laterally extended eyebrow, Short 2nd finger, Broad hallux, Sandal gap, Highly arched eyebrow, Sh... |
OMIM:600987 |
Chromosome Xq13 Duplication Syndrome |
|
Medial flaring of the eyebrow, Highly arched eyebrow, Metatarsus adductus, Deeply set eye, Talipe... |
OMIM:301069 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Small for gestational age, Hypertelorism, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Ov... |
OMIM:617796 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Cerebellar atrophy, Cerebral cortical atrophy, Microcephaly |
ORPHA:280763 |
Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Spina bifida, Partial agenesis of the corpus callosum, Optic disc c... |
OMIM:304050 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Increased CSF lactate |
OMIM:612016 |
Joubert Syndrome 9 |
|
Encephalocele, Molar tooth sign on MRI, Ventriculomegaly |
OMIM:612285 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sandal gap, Short stature, Supernumerary nipple, Hypertelorism, Sparse eyebrow, Cryptorchidism, 3... |
OMIM:612530 |
Pontocerebellar Hypoplasia, Type 2E |
|
Cerebellar atrophy, Ventriculomegaly, Microcephaly, Cerebral atrophy, Secondary microcephaly, Pro... |
OMIM:615851 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Bowing of the long bones, Hypertelorism, Hydrocephalus, Hypotelorism, Deeply set eye, Intrauterin... |
OMIM:612940 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Sandal gap, Ataxia, Tapered finger, Poor coordination, Obesity, Deeply set eye, Clinodactyly of t... |
OMIM:618430 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Short metacarpal, Brachydactyly, Rhizomelia, Small for gestational age, Hypertelorism, Short meta... |
OMIM:614813 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Cerebellar atrophy, Elevated CSF fumarate concentration, Cerebral atrophy, Increased CSF lactate |
OMIM:619060 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Cerebral atrophy, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620156 |
Acute Peripheral Arterial Occlusion |
|
Paralysis |
ORPHA:90064 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Paralysis |
OMIM:605285 |
Bangstad Syndrome |
|
Ataxia, Short stature, Deviation of finger, Deeply set eye, Intrauterine growth retardation, Abno... |
ORPHA:1227 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Biparietal narrowing, Molar tooth sig... |
ORPHA:220497 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Obesity, Chiari type I malformation, Choreoathetosis, Syringomyelia, Impaired social interactions... |
ORPHA:261197 |
47,Xyy Syndrome |
|
Hyperactivity, Impulsivity, Hydrocephalus, Abnormal brainstem morphology, Attention deficit hyper... |
ORPHA:8 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Optic disc pallor, Cerebellar vermis hypoplasia, Small for gestational ... |
OMIM:619869 |
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Cerebellar atrophy, Atrophy of the spinal cord, Cerebral atrophy, Atrophy/Degeneration affecting ... |
ORPHA:445062 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cryptorchidism, Gait ataxia, Deeply set eye, Delayed puberty, Spasticity, Spastic gait |
ORPHA:496790 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Cerebellar vermis hypoplasia, Abnorm... |
ORPHA:98 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... |
ORPHA:101039 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Abnormal lower motor neuron morphology, Ataxia, Impulsivity, Optic atrophy, M... |
OMIM:614298 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Short stature, Deeply set eye, Patchy alopecia, Broad distal phalanx of finger, Sparse hair, Broa... |
OMIM:617763 |
Kaya-Barakat-Masson Syndrome |
|
Cerebellar atrophy, Cerebral atrophy, Microcephaly |
OMIM:619125 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Sparse eyelashes, Alopecia totalis, Hypertelorism, Sparse eyebrow, Bilateral crypt... |
OMIM:613451 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Cerebellar atrophy, Microcephaly |
OMIM:618506 |
Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Sandal gap, Supernumerary nipple, Hypertelorism, Cryptorchidism, Hydrocephalus, Abnormal fibula m... |
ORPHA:1812 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy |
OMIM:617917 |
Spinocerebellar Ataxia Type 3 |
|
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Proptos... |
ORPHA:98757 |
Galloway-Mowat Syndrome 10 |
|
Cerebellar atrophy, Microcephaly, Cerebral atrophy, Secondary microcephaly, Primary microcephaly |
OMIM:619609 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation |
OMIM:619995 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Cerebellar atrophy, Corpus callosum atrophy, Cerebral atrophy |
OMIM:618088 |
Huntington Disease |
|
Cerebellar atrophy, Neuronal loss in central nervous system |
OMIM:143100 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Cerebellar atrophy |
OMIM:618412 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Microcephaly, Increased CSF lactate, Neurodegeneration, Neuronal loss in cent... |
OMIM:616239 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Ataxia, Short stature, Cryptorchidism, Dysmetria, Hypotelorism, Deeply set eye, Dysdiadochokinesi... |
OMIM:616541 |
Developmental And Epileptic Encephalopathy 48 |
|
Cerebellar atrophy, Cerebral atrophy, Microcephaly |
OMIM:617276 |
Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Aplasia/Hypoplasia of the cerebellum, Microcephaly |
ORPHA:2585 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Mild microcephaly |
OMIM:616127 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI, Macrocephaly |
OMIM:617767 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Ataxia, Short stature, Hypertelorism, Synophrys, Small hand, Obesity, Genu valgum, Short foot, De... |
OMIM:618443 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Neurodegeneration, Atrophy/Degeneration affecting the brainstem |
OMIM:612319 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hydrocephalus, Chiari type I malformation, Neurodegeneration, Cerebellar hypoplasia, Macrocephaly... |
OMIM:618476 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Chiari malformation, Macrocephaly, Aplasia/Hypoplasia of the cerebellum, Ventricul... |
ORPHA:60040 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus, Microcephaly |
ORPHA:398189 |
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Ventriculomegaly, Microcephaly |
ORPHA:466934 |
1Q44 Microdeletion Syndrome |
|
Microcephaly, Hydrocephalus, Biparietal narrowing, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:238769 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Cerebellar hypoplasia |
OMIM:618731 |
Smith-Magenis Syndrome |
|
Short stature, Synophrys, Increased body weight, Deeply set eye, Short palm, Brachydactyly |
OMIM:182290 |
Joubert Syndrome 35 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, At... |
OMIM:618161 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
Rhyns Syndrome |
|
Deeply set eye |
ORPHA:140976 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Facial palsy, Abnormal repetitive mannerisms, Bruxism, Obesity, Irritability, Late... |
OMIM:615873 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypertelorism, Sparse eyebrow, Abnormal eyelash morphology, Widow's peak, Severe postnatal growth... |
ORPHA:2399 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Cerebral atrophy, Caudate atrophy, Cerebellar vermis atrophy |
OMIM:617435 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy |
OMIM:616948 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Cerebral atrophy, Increased CSF lactate, Brain atrophy, Neuronal loss in cent... |
OMIM:604377 |
Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy |
OMIM:604432 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Perlman Syndrome |
|
Deeply set eye, Cryptorchidism |
ORPHA:2849 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Aggressive behavior, Inability to walk, Lateral ventricle dilatation, Difficulty walking, Dilated... |
ORPHA:464738 |
Weaver Syndrome |
|
Lateral ventricle dilatation, Polyphagia, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:277590 |
Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy |
OMIM:607458 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Toe syndactyly, Tapered finger, Hypertelorism, Sparse eyebrow, Low anterior hairline, Low posteri... |
OMIM:619720 |
Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Cerebellar Purkinje layer atrophy, Generalized cerebral atrophy/hypoplasia, A... |
ORPHA:98759 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, Molar tooth sign on MRI, Ventr... |
OMIM:619479 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly, Macrocephaly, Ventriculomegaly |
ORPHA:93274 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Leber Congenital Amaurosis 8 |
|
Deeply set eye, Pigmentary retinopathy, Nummular pigmentation of the fundus |
OMIM:613835 |
Muenke Syndrome |
|
Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, Hypertelorism, Hydrocephalus,... |
ORPHA:53271 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowed slurred speech... |
ORPHA:240071 |
Rhombencephalosynapsis |
|
Fusion of the cerebellar hemispheres, Agenesis of cerebellar vermis, Hydrocephalus, Macrocephaly,... |
ORPHA:59315 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Deeply set eye, Dysplastic corpus callosum, Ventriculomegaly |
OMIM:616900 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia |
OMIM:618090 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Cryptorchidism, Short metatarsal, Advanced ossification of carpal bones, Blue i... |
OMIM:614613 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Brain atrop... |
ORPHA:79263 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Abnormal cerebellum morphology, Cerebral atrophy |
ORPHA:98762 |
Mosaic Trisomy 1 |
|
Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Cerebell... |
ORPHA:1692 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Deeply set eye, Short stature, Obesity, Hypertelorism |
OMIM:619056 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Lacrimation abnormality, Short stature, Postaxial hand polydactyly, Low posterior hairline, Clino... |
ORPHA:2916 |
Cockayne Syndrome Type 1 |
|
Lower limb spasticity, Ataxia, Hypermelanotic macule, Tremor, Cryptorchidism, Postnatal growth re... |
ORPHA:90321 |
Alexander Disease |
|
Ataxia, Facial palsy, Aqueductal stenosis, Hydrocephalus, Chorea, Depression, Self-injurious beha... |
ORPHA:58 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Cerebellar atrophy |
OMIM:608029 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Lateral ventricle dilatation, Tip-toe gait, Attention deficit hyperactivity disorder |
OMIM:617557 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Optic atrophy, Abnormal temper tantrums, Abnormal social behavior, Abnorma... |
ORPHA:530983 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Torticollis, White eyelashes, Ataxia, White eyebrow, Cryptorchidism, Spastic tetraplegia, Hypopig... |
OMIM:609136 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI, Inability to walk, Self-mutilation, Aggressive behavior |
OMIM:614970 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Cerebellar atrophy, Microcephaly, Cerebral atrophy, Increased CSF lactate, Ventriculomegaly |
OMIM:618397 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Deeply set eye, Clinodactyly, Ataxia, Hypotelorism |
OMIM:603585 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Axonal degeneration, Increased CSF lactate, Subependymal cysts, Neurodegeneration, Primary microc... |
ORPHA:478029 |
Pontocerebellar Hypoplasia, Type 1B |
|
Cerebellar atrophy, Cerebral atrophy, Progressive microcephaly, Cerebellar cyst |
OMIM:614678 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Rhizomelia, Short stature, Cryptorchidism, Flared metaphys... |
OMIM:602471 |
Progressive Myoclonic Epilepsy Type 3 |
|
Cerebellar atrophy, Cerebral atrophy, Microcephaly |
ORPHA:263516 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Dysesthesia, Abnormal brainstem morphology, Dysmetria, Depression, Gait ataxia, Bradykine... |
ORPHA:93256 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Cerebellar atrophy |
OMIM:618237 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, O... |
ORPHA:3077 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Cerebral atrophy |
OMIM:617916 |
Trichotillomania |
|
Hair-pulling |
OMIM:613229 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopros... |
ORPHA:1908 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Lower limb spasticity, Ataxia, Hypertelorism, Sparse eyebrow, Synophrys, Growth delay, Deeply set... |
OMIM:617193 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Ataxia, Obesity, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Overlapping toe, Short stature, Small for gestational age, Tapered finger, Hyperte... |
OMIM:619148 |
Developmental And Epileptic Encephalopathy 31B |
|
Optic atrophy, Irritability, Colpocephaly, Choking episodes, Failure to thrive, Agenesis of corpu... |
OMIM:620352 |
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Retrocerebellar cyst, Diffuse cerebellar atrophy, Ventriculomegaly |
ORPHA:363429 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Short Syndrome |
|
Alopecia, Severe short stature, Hypertelorism, Weight loss, Deeply set eye, Short palm, Sparse ha... |
ORPHA:3163 |
Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy |
OMIM:617770 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Cerebellar atrophy, Cerebral cortical atrophy, Microcephaly |
OMIM:617481 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Microcephaly |
OMIM:618170 |
Fg Syndrome Type 1 |
|
Broad-based gait, Optic nerve hypoplasia, Abnormal cerebellum morphology, Hydrocephalus, Attentio... |
ORPHA:93932 |
Mast Syndrome |
|
Cerebellar atrophy, Cerebral atrophy |
OMIM:248900 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Cerebellar atrophy |
OMIM:610357 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Cerebellar atrophy, Cerebral atrophy, Primary microcephaly |
OMIM:301006 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Supernumerary nipple, Hypertelorism, Cryptorchidism, Synophrys, Low posterior hairline, Deeply se... |
OMIM:618929 |
Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Hypertelorism, Deeply set eye, Abnormal metacarpal morphology, Clinodact... |
ORPHA:137834 |
17Q12 Microduplication Syndrome |
|
Deeply set eye, Toe syndactyly, Finger syndactyly, Synophrys |
ORPHA:261272 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Chiari malformation |
ORPHA:93262 |
Hydrolethalus |
|
Micromelia, Cryptorchidism, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Deeply set ey... |
ORPHA:2189 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Cerebellar atrophy |
OMIM:301020 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Macrocephaly, Ventriculomegaly, Cerebellar cyst |
OMIM:616538 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Radial deviation of the hand, Short stature, Rocker bottom foot, Deeply set eye, Talipes equinova... |
OMIM:301041 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Im... |
OMIM:256600 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Decreased nerve conduction velocity, Chorea, Optic atrophy, Progressive psy... |
ORPHA:309271 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormalit... |
ORPHA:897 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Deeply set eye, Short stature |
ORPHA:3204 |
Temple Syndrome |
|
Relative macrocephaly, Hydrocephalus |
ORPHA:254516 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus |
ORPHA:2183 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Short stature, Cryptorchidism, Babinski sign, Deeply set eye, Myoclonus, Spasticity, Slender build |
ORPHA:364028 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Cerebellar atrophy, Secondary microcephaly, Cerebral atrophy |
OMIM:614654 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Alkuraya-Kucinskas Syndrome |
|
Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Kinked brainstem, Macrocephaly... |
OMIM:617822 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, Agenesis of corpus callosum, Primary microcephaly |
ORPHA:89844 |
Warburg Micro Syndrome 2 |
|
Overlapping toe, Postnatal growth retardation, Cryptorchidism, Low anterior hairline, Spastic dip... |
OMIM:614225 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Relative macrocephaly, Cerebellar vermis hypoplasia, Hydrocephalus, Agenesis of corpus callosum, ... |
ORPHA:459061 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Oculodentodigital Dysplasia |
|
Brittle hair, Hypotelorism, Deeply set eye, Sparse hair, Clinodactyly of the 5th finger, Abnormal... |
ORPHA:2710 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum |
OMIM:300952 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Decreased testicular size, Lower limb spasticity, Broad hallux, Postnatal growth retardation, Sle... |
ORPHA:251028 |
Developmental And Epileptic Encephalopathy 49 |
|
Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Hydrocephalus, Dandy-Walk... |
OMIM:617281 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus, Cerebral atrophy |
OMIM:269920 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Biparietal narrowing, Molar tooth sig... |
ORPHA:220493 |
Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy |
OMIM:613908 |
Ssr4-Cdg |
|
Deeply set eye, Failure to thrive |
ORPHA:370927 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cerebellar atrophy, Cerebral atrophy, Progressive microcephaly |
OMIM:618917 |
Folinic Acid-Responsive Seizures |
|
Cerebellar atrophy, Elevated CSF neopterin level, Frontotemporal cerebral atrophy, Decreased CSF ... |
ORPHA:79097 |
Galloway-Mowat Syndrome 6 |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Microcephaly |
OMIM:618347 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Ataxia, Synophrys, Piebaldism, Hypopigm... |
ORPHA:2884 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Hypertelorism, Cryptorchidism, Fine hair, Deeply set eye, Athetosis, Sparse hair, Intrauterine gr... |
OMIM:614438 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Atrophy of the spinal cord, ... |
ORPHA:35689 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Sparse scalp hair, Short stature, Highly arc... |
ORPHA:1001 |
Spinocerebellar Ataxia 14 |
|
Cerebellar atrophy |
OMIM:605361 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:272 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Cerebellar atrophy, Ventriculomegaly, Microcephaly |
ORPHA:431361 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Slow-growing hair, Lacrimatio... |
ORPHA:1896 |
Amoebiasis Due To Free-Living Amoebae |
|
Restlessness, Abnormal medulla oblongata morphology, Ataxia, Facial palsy, Abnormal midbrain morp... |
ORPHA:68 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Abnormal pyramidal sign, Hypopigme... |
ORPHA:163746 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Cerebellar atrophy, Irritability, Lateral ventricle dilatation, Dysphagia |
OMIM:618367 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI, Optic disc pallor, Ataxia |
OMIM:617121 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Cerebral cortical atrophy, Ventriculomegaly |
ORPHA:157941 |
Chromosome 10Q22.3-Q23.2 Deletion Syndrome |
|
Breast aplasia, Deeply set eye, Arachnodactyly, Hypertelorism |
OMIM:612242 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Hypertelorism, Low anterior hairline, Deeply set eye, Prominent fingertip pads, Limb hypertonia |
OMIM:616875 |
D-Glyceric Aciduria |
|
Spastic tetraplegia, Opisthotonus, Growth delay, Deeply set eye, Myoclonus, Spasticity, Failure t... |
OMIM:220120 |
Limbal Stem Cell Deficiency |
|
Blepharospasm, Lacrimation abnormality, Epiphora |
ORPHA:171673 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Low anterior hairline, Spasticity, Deeply set eye, Horizontal eyebrow, High anterior hairline, Th... |
OMIM:618797 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Failure to thrive, Cerebellar vermis hypoplasia, Optic nerve hypoplasia... |
OMIM:615574 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Cerebellar atrophy |
OMIM:615386 |
Walker-Warburg Syndrome |
|
Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Macrocephaly, Dandy-Walker malformation, Agen... |
ORPHA:899 |
Basilicata-Akhtar Syndrome |
|
Short palm, Short foot, Deeply set eye, Progressive spasticity, Camptodactyly, Adducted thumb |
OMIM:301032 |
Fanconi Anemia, Complementation Group R |
|
Chiari type I malformation, Hydrocephalus, Microcephaly |
OMIM:617244 |
Trisomy 13 |
|
Abnormal eyelash morphology, Cryptorchidism, Postaxial hand polydactyly, Hypotelorism, Deeply set... |
ORPHA:3378 |
Arthrogryposis, Distal, Type 2A |
|
Failure to thrive, Small for gestational age, Rocker bottom foot, Postnatal growth retardation, C... |
OMIM:193700 |
Obesity And Hypopigmentation |
|
Red hair, Obesity |
OMIM:620195 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Ataxia, Chorea, Spasticity, Failure to thrive |
ORPHA:70472 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Abnormal hair morphology, Macroorchidism, Male infertility, Oligozoospermia |
ORPHA:3000 |
Leukodystrophy, Hypomyelinating, 20 |
|
Cerebellar atrophy, Progressive microcephaly |
OMIM:619071 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy |
OMIM:613728 |
Lhermitte-Duclos Disease |
|
Hydrocephalus, Enlarged cerebellum, Macrocephaly |
ORPHA:65285 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Hyperostosis Cranialis Interna |
|
Proptosis, Epiphora |
OMIM:144755 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplasia of the brainste... |
OMIM:614643 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Hydrocephalus, Cerebral atrophy, Increased CSF protein concentration, Ventric... |
OMIM:272200 |
Dpm1-Cdg |
|
Cerebellar atrophy, Cerebral atrophy, Pontocerebellar atrophy, Secondary microcephaly, Abnormal d... |
ORPHA:79322 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse scalp hair, Sparse eyelashes, Pterygium of nails, Reticular hyperpigmentation, Epiphora, N... |
OMIM:224230 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Cerebral atrophy, Diffuse cerebral atrophy, Ventriculomegaly |
OMIM:617710 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Overweight, Depression, Gait disturbance, Abnormal repetitive mannerisms, Self-mutilation, Cerebe... |
ORPHA:457240 |
Alazami Syndrome |
|
Sparse eyebrow, Deeply set eye, Postnatal growth retardation |
ORPHA:319671 |
Trisomy 9P |
|
Hypoplastic fingernail, Hypertelorism, Hypoplastic toenails, Deeply set eye, Fingernail dysplasia... |
ORPHA:236 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Cerebellar atrophy, Cerebral atrophy |
OMIM:607250 |
Prune1-Related Neurological Syndrome |
|
Cerebellar atrophy, Cerebral atrophy, Microcephaly |
ORPHA:544469 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Short stature, Hypertelorism, Growth delay, Intrauterine growth retarda... |
OMIM:618541 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Cerebellar hypoplasia |
OMIM:617810 |
Methylcobalamin Deficiency Type Cble |
|
Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Brain atrophy, Ventriculomegaly |
ORPHA:2169 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Thin nail, Paralysis, Abnormal hair morphology, Short toe, Growth delay, Short finger, ... |
OMIM:242100 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Cerebellar atrophy, Cerebral atrophy, Increased CSF lactate, Atrophy/Degeneration affecting the b... |
OMIM:615838 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus, Chiari malformation, Cerebral atrophy |
ORPHA:171839 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Hypoplasia of the pons, Aqueductal stenosis, Hydrocephalus, Partial agenesis of th... |
OMIM:619512 |
Mosaic Trisomy 8 |
|
Hypopigmentation of the skin, Short stature, Camptodactyly of finger, Hypertelorism, Cryptorchidi... |
ORPHA:96061 |
Beaulieu-Boycott-Innes Syndrome |
|
Deeply set eye, High anterior hairline, Premature ovarian insufficiency, Endometriosis |
OMIM:613680 |
Cousin Syndrome |
|
Hydranencephaly, Rhizomelia, Hypertelorism, 4-5 toe syndactyly, Humeroradial synostosis, Low ante... |
OMIM:260660 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Eosinophilia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilia... |
OMIM:158310 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Macrocephaly, Hydrocephalus, Microcephaly |
OMIM:613330 |
Emanuel Syndrome |
|
Cryptorchidism, Hydrocephalus, Growth delay, Deeply set eye, Hypogonadism, Infertility, Intrauter... |
ORPHA:96170 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Rhizomelia, Short stature, Small for gestational age, Hypotelorism, Growth delay, Deeply set eye,... |
OMIM:614114 |
Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy |
ORPHA:276193 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis |
ORPHA:140989 |
Spastic Paraplegia 51, Autosomal Recessive |
|
Cerebellar atrophy, Cerebral cortical atrophy, Ventriculomegaly, Microcephaly |
OMIM:613744 |
Cockayne Syndrome B |
|
Dry hair, Severe short stature, Ataxia, Small for gestational age, Abnormal hair morphology, Trem... |
OMIM:133540 |
Pitt-Hopkins Syndrome |
|
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Incoordination, Supernumerary n... |
OMIM:610954 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Cerebral atrophy, Abnormal cerebrospinal fluid morphology |
ORPHA:254886 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Tremor, Paraplegia, Growth delay, Hypertonia, Hemiplegia, Hypopigmentat... |
ORPHA:79254 |
Joubert Syndrome 22 |
|
Molar tooth sign on MRI, Agenesis of cerebellar vermis, Temporal cortical atrophy |
OMIM:615665 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Hydrocephalus, Molar ... |
ORPHA:2318 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Cerebellar atrophy, Microcephaly, Hydrocephalus, Cerebral atrophy, Ventriculomegaly |
OMIM:614576 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Ataxia, Hypertelorism, Tremor, Postnatal growth retardation, Synophrys, Talipes cavus equinovarus... |
OMIM:300966 |
Congenital Myopathy 22A, Classic |
|
Synophrys, Deeply set eye, Proptosis, Normal pressure hydrocephalus, Congenital finger flexion co... |
OMIM:620351 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Appendicular spasticity, Overlapping toe, Cryptorchidism, Deeply set eye, Prominent fingertip pad... |
OMIM:618494 |
Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus, Macrocephaly |
OMIM:620343 |
Vernal Keratoconjunctivitis |
|
Lacrimation abnormality |
ORPHA:70476 |
Pontocerebellar Hypoplasia, Type 1D |
|
Cerebellar atrophy, Cerebral cortical atrophy, Cerebral atrophy, Microcephaly |
OMIM:618065 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse eyelashes, Short stature, Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyly,... |
OMIM:257850 |
Young-Onset Parkinson Disease |
|
Restless legs, Short attention span, Impulsivity, Depression, Bradykinesia, Frontal lobe dementia... |
ORPHA:2828 |
Halperin-Birk Syndrome |
|
Inability to walk, Optic atrophy, Pseudobulbar paralysis, Colpocephaly, Failure to thrive, Agenes... |
OMIM:618651 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy |
OMIM:618387 |
Noonan Syndrome 14 |
|
Lateral ventricle dilatation |
OMIM:619745 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Cerebral atrophy |
OMIM:300423 |
Trisomy 1Q |
|
Hydrocephalus, Cerebellar hypoplasia, Macrocephaly, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:261344 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Pontocerebellar Hypoplasia, Type 7 |
|
Hypoplasia of the pons, Hydrocephalus, Cerebral atrophy, Progressive microcephaly, Hypoplasia of ... |
OMIM:614969 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short stature, Cryptorchidism, Hydrocephalus, Short foot, D... |
ORPHA:250989 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Deeply set eye, Arachnodactyly, Short stature |
OMIM:619013 |
Classic Galactosemia |
|
Speech apraxia, Male infertility, Incoordination, Ataxia, Postural tremor, Premature ovarian insu... |
ORPHA:79239 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Cerebellar atrophy, Corpus callosum atrophy, Cerebral cortical atrophy, Cerebral atrophy |
ORPHA:320391 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Ataxia, Thin nail, Short stature, Small for gestational age, Vocal cord pa... |
OMIM:617799 |
Thanatophoric Dysplasia |
|
Hydrocephalus, Ventriculomegaly, Macrocephaly |
ORPHA:2655 |
Cadds |
|
Cerebellar atrophy, Ventriculomegaly |
ORPHA:369942 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Exaggerated startle response, Hypoplasia of the pyramidal tract, Hydrocephalus, Ho... |
OMIM:253800 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Gait ataxia, Deeply set eye, Ventriculomegaly, Hypotelorism |
OMIM:300486 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Supernumerary nipple, Hypertelorism, Sparse eyebrow, Synophrys, 2-3 toe syndactyly, Deeply set ey... |
OMIM:620098 |
Japanese Encephalitis |
|
Hyperintensity of MRI T2 signal of the spinal cord, Decreased motor nerve conduction velocity, Ab... |
ORPHA:79139 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Cerebellar atrophy, Microcephaly, Cerebral atrophy, Progressive microcephaly, Cerebral cortical a... |
OMIM:617802 |
Bone Marrow Failure Syndrome 3 |
|
Metaphyseal dysplasia, Short stature, Hypertelorism, Cryptorchidism, Deeply set eye, Hypomelanoti... |
OMIM:617052 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy |
OMIM:619028 |
Nizon-Isidor Syndrome |
|
Hypertelorism, Sparse eyebrow, Long fingers, Deeply set eye, Prominent fingertip pads, Agenesis o... |
OMIM:618872 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Ataxia, Short stature, Premature graying of hai... |
ORPHA:3322 |
Crouzon Syndrome |
|
Hydrocephalus, Chiari malformation, Cerebellar hypoplasia |
ORPHA:207 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Cerebellar atrophy |
ORPHA:85317 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Cerebellar atrophy, Microcephaly, Cerebral atrophy, Secondary microcephaly, Cerebellar hypoplasia... |
OMIM:616672 |
Developmental And Epileptic Encephalopathy 93 |
|
Cerebellar atrophy, Cerebral atrophy, Microcephaly |
OMIM:618012 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Diffuse cerebral atrophy, Diffuse cerebellar atrophy |
ORPHA:477774 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Generalized hirsutism |
ORPHA:2221 |
Joubert Syndrome 7 |
|
Encephalocele, Ataxia, Brainstem dysplasia, Hypoplasia of the brainstem, Molar tooth sign on MRI |
OMIM:611560 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Hypoplasia of the pons, Cerebral atrophy, Cerebellar atrophy, Ventriculomegaly |
OMIM:616430 |
Cockayne Syndrome A |
|
Dry hair, Ataxia, Short stature, Tremor, Retinal pigment epithelial mottling, Cryptorchidism, Irr... |
OMIM:216400 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Cerebellar atrophy, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem |
OMIM:616479 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Unilateral cryptorchidism, Proportionate short stature, Hypertelorism, Bilateral cryptorchidism, ... |
OMIM:613457 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Optic nerve compression, Optic atrophy, Lateral ventricle dilatation |
OMIM:612301 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Relative macrocephaly, Cerebellar hypoplasia, Cerebellar atrophy, Cerebral cortical atrophy |
OMIM:616354 |
Developmental And Epileptic Encephalopathy 67 |
|
Cerebellar atrophy |
OMIM:618141 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Deeply set eye, Ventriculomegaly |
ORPHA:284169 |
Distal Xq28 Microduplication Syndrome |
|
Short stature, Metatarsus adductus, Deeply set eye, Clinodactyly, Cafe-au-lait spot, Aplasia/Hypo... |
ORPHA:293939 |
Filippi Syndrome |
|
Cerebellar atrophy, Microcephaly |
OMIM:272440 |
Spinocerebellar Ataxia 27B, Late-Onset |
|
Cerebellar atrophy |
OMIM:620174 |
Recon Progeroid Syndrome |
|
Arachnodactyly, Short stature, Proximal placement of thumb, Hyperconvex thumb nails, Absent lower... |
OMIM:620370 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Increased CSF lactate, Microcephaly |
OMIM:617664 |
Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Ataxia, Exencephaly |
OMIM:614464 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Cerebellar atrophy |
OMIM:607565 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Progressive cerebellar ataxia, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Eunuchoid habitus, Sparse pubic hair, Deeply set eye, Breast aplasia, Decreased testicular size |
ORPHA:3044 |
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies |
|
Cerebellar atrophy, Ventriculomegaly |
OMIM:618547 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
Alg1-Cdg |
|
Cerebellar atrophy, Cerebral atrophy, Progressive microcephaly |
ORPHA:79327 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly |
OMIM:615630 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Cerebellar atrophy |
ORPHA:284271 |
Emanuel Syndrome |
|
Torticollis, Cryptorchidism, Hydrocephalus, Deeply set eye, Intrauterine growth retardation, Fail... |
OMIM:609029 |
Stuve-Wiedemann Syndrome 1 |
|
Brachydactyly, Bowing of the long bones, Short stature, Adducted thumb, Clubbing, Abnormal metaph... |
OMIM:601559 |
Myasthenic Syndrome, Congenital, 16 |
|
Periodic paralysis |
OMIM:614198 |
De Barsy Syndrome |
|
Short stature, Hypertelorism, Postnatal growth retardation, Cryptorchidism, Coxa vara, Deeply set... |
ORPHA:2962 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Microcephaly, Meningoencephalocele, Hydrocephalus, Hypoplasia of the bra... |
OMIM:236670 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Micromelia, Postaxial p... |
OMIM:612651 |
Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Cerebellar vermis atrophy |
OMIM:620158 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly, Macrocephaly |
OMIM:603387 |
Spinocerebellar Ataxia 13 |
|
Cerebellar atrophy |
OMIM:605259 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus |
OMIM:601794 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Cerebellar atrophy, Cerebral atrophy, Ventriculomegaly |
OMIM:618659 |
Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy |
ORPHA:71517 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Colpocephaly, Chiari malformation, Decreased body weight, Agenesis of cor... |
OMIM:609053 |
Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy |
OMIM:607346 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Chiari malformation, Increa... |
ORPHA:268810 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI, Ataxia, Gait ataxia |
OMIM:617120 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Pain insensitivity, Torticollis, Inability to walk by childhood/adolescence, Choreoathetosis, Dee... |
OMIM:620224 |
Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spinal dysraphism, Microcephaly |
ORPHA:1926 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Lateral ventricle dilatation, Choroid plexus cyst |
ORPHA:293725 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Premature ovarian insufficiency, Overlapping toe, Endometriosis, Dysplastic corpus callosum, Deep... |
ORPHA:363444 |
16P11.2P12.2 Microdeletion Syndrome |
|
Toe syndactyly, Short stature, Camptodactyly of finger, Proximal placement of thumb, Hypotelorism... |
ORPHA:261211 |
Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI, Inability to walk, Ataxia, Ventriculomegaly |
OMIM:617563 |
Barth Syndrome |
|
Fair hair, Growth delay, Deeply set eye, Talipes equinovarus, Failure to thrive |
OMIM:302060 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus, Macrocephaly |
OMIM:300863 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Secondary mi... |
OMIM:619306 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Cerebellar atrophy, Brain atrophy, Microcephaly |
OMIM:614739 |
Sandhoff Disease, Juvenile Form |
|
Cerebellar atrophy, Cerebral atrophy |
ORPHA:309162 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Cerebellar vermis atrophy |
OMIM:616204 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Failure to thrive, Hypertelorism, Cryptorchidism, Deeply set eye, Delayed... |
ORPHA:52 |
Myopathy, Centronuclear, X-Linked |
|
Hydrocephalus, Dandy-Walker malformation, Macrocephaly |
OMIM:310400 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus |
ORPHA:2181 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy |
ORPHA:101110 |
Say-Barber-Miller Syndrome |
|
Short stature, Abnormality of the hairline, Highly arched eyebrow, Hypertelorism, Sparse eyebrow,... |
ORPHA:3132 |
Lessel-Kreienkamp Syndrome |
|
Clinodactyly of the 5th finger, Deeply set eye |
OMIM:619149 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Abnormal cerebrospinal fluid morphology, Cerebral atrophy, Neuronal loss in c... |
ORPHA:314404 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cerebellar atrophy, Cerebral atrophy, Increased CSF lactate, Decreased CSF copper concentration, ... |
OMIM:620306 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Relative macrocephaly, Cerebellar vermis atrophy, Ventriculomegaly |
OMIM:300354 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Cerebellar atrophy, Cerebral cortical atrophy |
OMIM:617225 |
Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Optic disc pallor, Cerebellar vermis hypoplasia, Ataxia, ... |
OMIM:216360 |
Mitochondrial Dna Depletion Syndrome 17 |
|
Cerebellar atrophy, Cerebral atrophy |
OMIM:618567 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Low anterior hairline, Deeply set eye, Limb hypertonia, Prominent fingertip pads, Vitiligo |
ORPHA:480898 |
Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Neuronal loss in central nervous system |
OMIM:607136 |
Stt3A-Cdg |
|
Cerebellar atrophy, Microcephaly |
ORPHA:370921 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Short stature, Proximal placement of thumb, Tapered finger, Cryptorchidism,... |
ORPHA:251071 |
Stt3B-Cdg |
|
Cerebellar atrophy, Microcephaly |
ORPHA:370924 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus, Macrocephaly |
ORPHA:2180 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar atrophy, Cerebellar vermis atrophy |
OMIM:614229 |
Hypokalemic Periodic Paralysis |
|
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis |
ORPHA:681 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Hydrocephalu... |
OMIM:615287 |
Rabin-Pappas Syndrome |
|
Microcephaly, Hypoplasia of the pons, Hydrocephalus, Chiari type I malformation, Cerebellar hypop... |
OMIM:620155 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Optic disc pallor, Optic nerve hypoplasia, Hypoplasia of the pons, Hypo... |
OMIM:300749 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Arachnodactyly, Sandal gap, Short stature, Cryptorchidism, Deeply ... |
OMIM:617602 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Cerebellar atrophy |
OMIM:619686 |
Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Small hand, Short foot, Deeply set eye, Severe intr... |
OMIM:241410 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hydrocephalus, Secondary microcephaly, Brain atrophy, Dandy-Walker malformation |
OMIM:612938 |
Leukodystrophy, Hypomyelinating, 15 |
|
Cerebellar atrophy, Cerebral atrophy, Microcephaly |
OMIM:617951 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebellar atrophy, Cerebral cortical atrophy |
OMIM:618369 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia, Abnormal hair morphology, Paronychia, Deeply set eye, Dystrophic fingernails |
ORPHA:2314 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Positive Romberg sign, Cerebellar hypoplas... |
ORPHA:314647 |
Hengel-Maroofian-Schols Syndrome |
|
Cerebellar atrophy, Cerebral atrophy, Microcephaly |
OMIM:619641 |
Congenital Disorder Of Glycosylation, Type 2V |
|
Hypertelorism, Low posterior hairline, Hydrocele testis, Deeply set eye, Talipes equinovarus |
OMIM:619493 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Cerebellar atrophy, Microcephaly |
OMIM:615597 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Cerebellar atrophy, Cerebral atrophy, Microcephaly |
OMIM:619286 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Abnormal pons morphology, Cerebellar hypoplasia, Lateral ventricle dilatation, Large for gestatio... |
OMIM:300868 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Microcephaly |
OMIM:612438 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Decreased nerve conduction velocity, Optic atrophy, Progressive psychomotor... |
ORPHA:309263 |
Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Temple Syndrome |
|
Relative macrocephaly, Hydrocephalus |
OMIM:616222 |
Peho Syndrome |
|
Cerebellar atrophy, Neuronal loss in central nervous system, Progressive microcephaly |
OMIM:260565 |
B4Galt1-Cdg |
|
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation |
ORPHA:79332 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Amyotrophic lateral sclerosis, Frontotemporal dementia, Cranial nerve compression,... |
ORPHA:52430 |
Peroxisome Biogenesis Disorder 8B |
|
Cerebellar atrophy, Corpus callosum atrophy, Cerebellar vermis atrophy, Brain atrophy |
OMIM:614877 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Deeply set eye, Overlapping fingers, Intrauterine growth retardation |
OMIM:615966 |
Zaki Syndrome |
|
Dilated fourth ventricle, Unsteady gait, Cerebellar vermis hypoplasia, Spastic gait |
OMIM:619648 |
Developmental And Epileptic Encephalopathy 47 |
|
Cerebellar atrophy, Secondary microcephaly |
OMIM:617166 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy |
OMIM:618093 |
Arima Syndrome |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Br... |
OMIM:243910 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Spinocerebellar Ataxia 32 |
|
Cerebellar atrophy |
OMIM:613909 |
Spastic Ataxia 2, Autosomal Recessive |
|
Cerebellar atrophy, Cerebral atrophy |
OMIM:611302 |
Tenorio Syndrome |
|
Hydrocephalus, Cerebral cortical atrophy, Ventriculomegaly, Macrocephaly |
OMIM:616260 |
Episodic Ataxia, Type 6 |
|
Cerebellar atrophy, Cerebellar hypoplasia |
OMIM:612656 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Cerebellar atrophy, Cerebral atrophy |
OMIM:614409 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Deeply set eye, Cryptorchidism |
OMIM:618504 |
Pseudohypoaldosteronism Type 2 |
|
Growth delay, Short stature, Periodic paralysis |
ORPHA:757 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... |
OMIM:606070 |
Scholte Syndrome |
|
Cerebellar atrophy |
OMIM:300977 |
Vitamin K Antagonist Embryofetopathy |
|
Hydrocephalus, Myelomeningocele |
ORPHA:1914 |
Rhyns Syndrome |
|
Radial bowing, Short stature, Deeply set eye, Short femoral neck, Brachydactyly |
OMIM:602152 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Cerebellar atrophy, Cerebral atrophy |
OMIM:620269 |
X-Linked Adrenoleukodystrophy |
|
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,... |
ORPHA:43 |
Sunct Syndrome |
|
Increased tear production, Epiphora |
ORPHA:57145 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:77298 |
Desmosterolosis |
|
Relative macrocephaly, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Macr... |
OMIM:602398 |
Deafness-Craniofacial Syndrome |
|
Deeply set eye, Temporal hypotrichosis |
ORPHA:3241 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Cerebellar atrophy |
OMIM:610743 |
Metatropic Dysplasia |
|
Hydrocephalus |
ORPHA:2635 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Pain insensitivity, Cerebellar vermis hypoplasia, Overweight, Molar toot... |
OMIM:619562 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Cerebellar atrophy, Microcephaly |
OMIM:615084 |
Albers-Schönberg Osteopetrosis |
|
Hydrocephalus, Macrocephaly |
ORPHA:53 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Broad hallux, Sandal gap, Hypertelorism, Cryptorchidism, Synophrys, Obesity, Deeply set eye, Cuta... |
OMIM:616078 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation, Abnormal cerebellar vermis morph... |
ORPHA:1647 |
Liang-Wang Syndrome |
|
Cerebellar atrophy, Cerebral atrophy |
OMIM:618729 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cerebellar atrophy, Ventriculomegaly, Microcephaly |
OMIM:610651 |
Episodic Ataxia Type 6 |
|
Cerebellar atrophy |
ORPHA:209967 |
Sanjad-Sakati Syndrome |
|
Short stature, Postnatal growth retardation, Cryptorchidism, Small hand, Short foot, Deeply set e... |
ORPHA:2323 |
Rubinstein-Taybi Syndrome 1 |
|
Bilateral cryptorchidism, Low anterior hairline, Deeply set eye, Prominent fingertip pads, Clinod... |
OMIM:180849 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Deeply set eye, Spasticity, Hydrocephalus, Hypertrichosis |
OMIM:618590 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Severe short stature, Micromelia, Deeply set eye, Intrauterine growth retardati... |
ORPHA:1422 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Cerebellar atrophy, Microcephaly |
OMIM:618356 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy |
OMIM:616494 |
Spastic Paraplegia Type 7 |
|
Cerebellar atrophy, Cerebral cortical atrophy |
ORPHA:99013 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Cerebellar atrophy, Substantia nigra hypointensity on susceptibility-weighted imaging |
OMIM:618868 |
Spinocerebellar Ataxia 42 |
|
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis |
OMIM:616795 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Cerebellar atrophy, Abnormal cerebellum morphology, Cerebral atrophy, Increased CSF lactate |
ORPHA:137898 |
Congenital Disorder Of Glycosylation, Type Il |
|
Cerebellar atrophy, Global brain atrophy, Microcephaly |
OMIM:608776 |
Developmental And Epileptic Encephalopathy 51 |
|
Cerebellar atrophy, Corpus callosum atrophy, Cerebral cortical atrophy, Increased CSF lactate |
OMIM:617339 |
Bresek Syndrome |
|
Hydrocephalus, Microcephaly |
ORPHA:85284 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Arachnodactyly, Long fingers, Hydrocephalus, Melanocytic... |
OMIM:616914 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Cerebellar atrophy, Cerebral atrophy |
OMIM:618247 |
Pitt-Hopkins Syndrome |
|
Ataxia, Supernumerary nipple, Tapered finger, Postnatal growth retardation, Cryptorchidism, Broad... |
ORPHA:2896 |
Intellectual Developmental Disorder, Autosomal Dominant 62 |
|
Cerebellar vermis atrophy |
OMIM:618793 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Global brain atrophy, Cerebellar vermis atrophy |
ORPHA:94124 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Cerebellar atrophy |
OMIM:300861 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI |
OMIM:619582 |
Spinocerebellar Ataxia 28 |
|
Cerebellar atrophy |
OMIM:610246 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation, Macrocephaly |
OMIM:612582 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Microcephaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Agenesis of... |
OMIM:264480 |
Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus, Chiari malformation |
ORPHA:93259 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Central heterochromia, Patchy hypopigmentation of hair, Absent r... |
ORPHA:233 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Optic disc pallor, Cerebellar vermis hypoplasia, Ataxia, Tethered cord, Inability to walk, Colpoc... |
OMIM:620083 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Blepharospasm, Epiphora |
ORPHA:98957 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hydrocephalus |
ORPHA:2701 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Olivopontocer... |
OMIM:212065 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Cerebellar atrophy, Cerebral atrophy, Atrophy/Degeneration affecting the brainstem |
OMIM:616192 |
Coach Syndrome 3 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:619113 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Perrault Syndrome 1 |
|
Cerebellar atrophy |
OMIM:233400 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral ventricle dilatation, Cerebellar vermis hypoplasia |
OMIM:263520 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Short stature, Female infertility, Cry... |
ORPHA:261529 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Progressive neurologic deterioration... |
OMIM:210710 |
Xfe Progeroid Syndrome |
|
Severe short stature, Premature ovarian insufficiency, Cachexia, Poor coordination, Deeply set ey... |
OMIM:610965 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hyp... |
ORPHA:444072 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Tip-toe... |
ORPHA:309256 |
Trisomy 8P |
|
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Clinodactyly of the 5th toe, Hy... |
ORPHA:264450 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Bilateral Polymicrogyria |
|
Cerebellar atrophy, Aplasia/Hypoplasia of the brainstem, Ventriculomegaly, Macrocephaly |
ORPHA:268940 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Microcephaly |
OMIM:619580 |
Phelan-Mcdermid Syndrome |
|
Broad-based gait, Impaired pain sensation, Hypertelorism, Unsteady gait, Deeply set eye, Ventricu... |
OMIM:606232 |
Short Syndrome |
|
Small for gestational age, Birth length less than 3rd percentile, Deeply set eye, Radial deviatio... |
OMIM:269880 |
Marinesco-Sjogren Syndrome |
|
Cerebellar atrophy, Cerebellar cortical atrophy, Microcephaly |
OMIM:248800 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Bowing of the long bones, Toe syndactyly, Arachnodactyly, Sandal gap, Highly arched eyebrow, Coxa... |
ORPHA:261330 |
Spinocerebellar Ataxia 49 |
|
Cerebellar atrophy |
OMIM:619806 |
Ermine Phenotype |
|
Hypopigmentation of hair, Toe syndactyly, Short stature, Ocular albinism, Hypopigmented skin patc... |
ORPHA:999 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Ataxia, Hypertelorism, Clinodactyly of the 2nd finger, Low posterior hairline, Deeply set eye, In... |
ORPHA:221139 |
Spinocerebellar Ataxia 26 |
|
Cerebellar atrophy |
OMIM:609306 |
Joubert Syndrome 8 |
|
Occipital encephalocele, Optic disc pallor, Ataxia, Obesity, Molar tooth sign on MRI |
OMIM:612291 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Thick eyebrow, Short stature, Tapered finger, Hydrocephalus, Flared metaphysis, Genu valgum, Grow... |
OMIM:616007 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Ataxia, Short stature, Reticulated skin pigm... |
OMIM:305000 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Severe postnatal growth retardation, Deeply set eye, Failure to thrive, Short stature |
OMIM:613038 |
Mucopolysaccharidosis, Type Iiid |
|
Thick eyebrow, Short stature, Hypertelorism, Synophrys, Deeply set eye, Coarse hair, Facial hirsu... |
OMIM:252940 |
Triploidy |
|
Hydrocephalus, Meningocele, Holoprosencephaly, Macrocephaly |
ORPHA:3376 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Cerebellar vermis atrophy |
OMIM:618501 |
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Cerebral atrophy |
ORPHA:527497 |
Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Lacrimation abnormality, Clonus, Short stature, Cryptorchidism, Fine hair, Gen... |
ORPHA:534 |
Behr Syndrome |
|
Cerebellar atrophy, Cerebellar vermis atrophy |
OMIM:210000 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Lacrimal Duct Defect |
|
Epiphora |
OMIM:149700 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Bilateral cryptorchidism, 2-3 toe syndactyly, Abnormality of hair p... |
OMIM:618156 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Abnormal midbrain morphology, Microcephaly, Abnormal hypothalamus morphology, Agen... |
ORPHA:314621 |
Spinocerebellar Ataxia Type 42 |
|
Cerebellar atrophy, Abnormal cerebellum morphology, Cerebellar vermis atrophy, Atrophy/Degenerati... |
ORPHA:458803 |
Griscelli Syndrome Type 2 |
|
Hypopigmentation of hair, Partial albinism, Premature graying of hair, Hypertonia, Iris hypopigme... |
ORPHA:79477 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
Holoprosencephaly |
|
Encephalocele, Failure to thrive in infancy, Highly arched eyebrow, Hypertelorism, Cryptorchidism... |
ORPHA:2162 |
Branchiootorenal Syndrome 1 |
|
Gustatory lacrimation, Lacrimation abnormality |
OMIM:113650 |
Congenital Disorder Of Glycosylation, Type Id |
|
Cerebellar atrophy, Cerebral atrophy, Microcephaly |
OMIM:601110 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
ORPHA:1895 |
Galloway-Mowat Syndrome 3 |
|
Arachnodactyly, Short stature, Hypertelorism, Deeply set eye, Camptodactyly, Intrauterine growth ... |
OMIM:617729 |
Webb-Dattani Syndrome |
|
Short stature, Cryptorchidism, Obesity, Deeply set eye, Spasticity |
OMIM:615926 |
Localized Scleroderma |
|
Abnormal skin adnexa morphology, Hypopigmented skin patches, Deeply set eye, Proptosis, Patchy al... |
ORPHA:90289 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Short stature, Spastic tetraparesis, Hypertelorism, Cryptorchidism, Widow's peak, Hyp... |
OMIM:616975 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
Cerebral Visual Impairment |
|
Central nervous system degeneration, Hydrocephalus, Neurodegeneration, Microcephaly |
ORPHA:447788 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Deeply set eye, Hypertelorism |
ORPHA:2575 |
Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation |
OMIM:613001 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Spastic Ataxia 3, Autosomal Recessive |
|
Cerebellar atrophy, Cerebral cortical atrophy, Cerebellar vermis atrophy |
OMIM:611390 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Cerebellar atrophy, Cerebral atrophy |
ORPHA:1947 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus, Cerebellar hypoplasia |
ORPHA:163966 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Optic disc pallor, Aggressive behavior, Hydrocephalus, Optic disc coloboma, Optic atrophy, Obesit... |
OMIM:607872 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hydrocephalus, Cerebral atrophy, Microcephaly |
OMIM:614886 |
Myhre Syndrome |
|
Overlapping toe, Ataxia, Short stature, Hypertelorism, Small for gestational age, Cryptorchidism,... |
OMIM:139210 |
Spinocerebellar Ataxia 4 |
|
Cerebellar atrophy |
OMIM:600223 |
Ataxia-Oculomotor Apraxia 4 |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem |
OMIM:616267 |
Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy |
OMIM:159550 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Cockayne Syndrome |
|
Abnormality of retinal pigmentation, Dry hair, Severe short stature, Ataxia, Cachexia, Action tre... |
ORPHA:191 |
Prader-Willi Syndrome |
|
Short palm, Hypopigmentation of the skin, Iris hypopigmentation, Syndactyly, Hypogonadotropic hyp... |
OMIM:176270 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Cerebellar atrophy, Cerebral atrophy, Ventriculomegaly, Microcephaly |
OMIM:617804 |
Spinocerebellar Ataxia Type 14 |
|
Cerebellar vermis atrophy |
ORPHA:98763 |
Joubert Syndrome |
|
Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Biparietal narrowing |
ORPHA:475 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Microcephaly, Hydrocephalus, Brain atrophy, Macrocephaly, Ventriculomegaly |
OMIM:613603 |
Galloway-Mowat Syndrome |
|
Aqueductal stenosis, Microcephaly |
ORPHA:2065 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Low anterior hairline, Deeply set eye, Prominent fingertip pads, High anterior hairline, Ataxia, ... |
OMIM:619950 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Cerebellar atrophy, Iron accumulation in substantia nigra |
ORPHA:496756 |
Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Agenesis of cor... |
OMIM:243605 |
Distal 17P13.1 Microdeletion Syndrome |
|
Deeply set eye, Abnormal hand morphology, Arachnodactyly |
ORPHA:319171 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Short metacarpal, Preaxial hand polydactyly, Enlarged metaphyses, Abnormal limb bone morphology, ... |
ORPHA:508533 |
Familial Cervical Artery Dissection |
|
Paralysis |
ORPHA:36382 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypotelorism, Deeply set eye, Hypertonia, Agenesis of corpus callosum, Genu varum, Long toe, Abse... |
OMIM:264090 |
19P13.13 Microdeletion Syndrome |
|
Sandal gap, Hypertelorism, Long fingers, Deeply set eye, Long eyelashes, Clinodactyly, Cafe-au-la... |
ORPHA:357001 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Cerebellar atrophy, Hypoplasia of the pons, Corpus callosum atrophy, Cerebellar hypoplasia, Parie... |
ORPHA:412057 |
Geroderma Osteodysplasticum |
|
Hyperextensibility of the finger joints, Severe short stature, Hypertelorism, Femoral bowing, Tib... |
OMIM:231070 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Speech apraxia, Ataxia, Short stature, Tapered finger, Hypertelorism, Cryptorchidism, Synophrys, ... |
OMIM:617330 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Microcep... |
OMIM:619103 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Microcephaly, Atrophy of the spinal cord, Hydrocephalus, Brain atrophy, Ventriculomegaly |
ORPHA:395 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Cerebellar atrophy, Partial absence of cerebellar vermis, Cerebellar hypoplasia, Microcephaly |
ORPHA:329224 |
Cone-Rod Dystrophy 10 |
|
Bone spicule pigmentation of the retina, Epiphora |
OMIM:610283 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Optic nerve hypoplasia, Dysplastic corpus callosum, Optic atrophy, ... |
ORPHA:500150 |
Neurooculorenal Syndrome |
|
Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplasia of the pons, Hydrocephalus, Partial... |
OMIM:620305 |
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux |
|
Impotence, Alacrima |
OMIM:608088 |
Hypermanganesemia With Dystonia 2 |
|
Cerebellar atrophy, Microcephaly, Cerebral atrophy, Secondary microcephaly, Macrocephaly |
OMIM:617013 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormal brainstem morphology |
ORPHA:2720 |
Niemann-Pick Disease Type C |
|
Ataxia, Progressive neurologic deterioration, Aggressive behavior, Chorea, Mental deterioration, ... |
ORPHA:646 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
3C Syndrome |
|
Hydrocephalus, Macrocephaly, Aplasia/Hypoplasia of the cerebellum, Dandy-Walker malformation, Ven... |
ORPHA:7 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cerebellar atrophy, Small for gestational age, Optic nerve dysplasia, Optic atrophy, Athetosis, C... |
OMIM:614866 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Cerebellar atrophy, Microcephaly |
ORPHA:352447 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:230800 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Pallidal degeneration, Progressive macrocephaly, Increased head circ... |
ORPHA:25 |
Paroxysmal Hemicrania |
|
Epiphora |
ORPHA:157835 |
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy |
OMIM:617560 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Aqueductal stenosis |
ORPHA:3035 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Cervical myelopathy, Brain atrophy, Cerebral atrophy |
OMIM:619260 |
Charge Syndrome |
|
Hypogonadotropic hypogonadism, Lacrimation abnormality, Highly arched eyebrow, Hypertelorism, Aqu... |
ORPHA:138 |
15Q14 Microdeletion Syndrome |
|
Deeply set eye, Short stature |
ORPHA:261190 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Agenesis of corpus callosum, Noncommunicating hydrocephalus |
OMIM:619320 |
Isolated Atp Synthase Deficiency |
|
Cerebellar atrophy, Cerebral cortical atrophy, Microcephaly |
ORPHA:254913 |
Keppen-Lubinsky Syndrome |
|
Lateral ventricle dilatation, Failure to thrive |
OMIM:614098 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Short stature, Ataxia, Hyperpigmentation of the skin, Babinski sign, Alacrima |
OMIM:231550 |
7Q11.23 Microduplication Syndrome |
|
Short stature, Hypertelorism, Sparse anterior scalp hair, Long fingers, Hydrocephalus, Cryptorchi... |
ORPHA:96121 |
Huppke-Brendel Syndrome |
|
Cerebellar atrophy, Cerebral atrophy |
OMIM:614482 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, White eyebrow, Blue irides, Iris transillumination defect, Generalized hypopigme... |
ORPHA:352731 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Cerebellar atrophy |
OMIM:614306 |
Spastic Ataxia 9, Autosomal Recessive |
|
Cerebellar vermis atrophy |
OMIM:618438 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Cerebellar atrophy |
OMIM:618098 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Short stature, Highly arched eyebrow, Hypertelorism, Supernumerary nipple, Cryptorchidism, 2-3 to... |
OMIM:618454 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Molar toot... |
OMIM:616546 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy |
ORPHA:352403 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Synophrys, Abnormality of skin pigmentation, Deeply set eye, Hypertonia, Hypopigmentation... |
OMIM:619475 |
Weiss-Kruszka Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618619 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Broad hallux, 1-2 toe syndactyly, Highly arched eyebrow, Tapered finger, Spastic tetraparesis, Sy... |
OMIM:301044 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Cln3 Disease |
|
Cerebellar atrophy, Generalized cerebral atrophy/hypoplasia |
ORPHA:228346 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy |
ORPHA:3085 |
Ritscher-Schinzel Syndrome 1 |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:220210 |
Snakebite Envenomation |
|
Pseudobulbar paralysis, Respiratory paralysis, Paralysis |
ORPHA:449285 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Cerebellar atrophy, Cerebral atrophy, Ventriculomegaly, Microcephaly |
OMIM:615471 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Weight loss, Periodic paralysis |
OMIM:613239 |
4H Leukodystrophy |
|
Cerebellar atrophy |
ORPHA:289494 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Atrophy of the spinal cord |
OMIM:612020 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Cerebellar hypoplasia |
ORPHA:313772 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy |
OMIM:617633 |
Thrombocytopenia 6 |
|
Deeply set eye, Hypotelorism |
OMIM:616937 |
Srd5A3-Cdg |
|
Cerebellar atrophy, Abnormal cerebellum morphology, Abnormal cerebellar vermis morphology |
ORPHA:324737 |
Tetrasomy 15Q26 |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:614846 |
Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Ventriculomegaly, Macrocephaly |
ORPHA:1860 |
Joubert Syndrome 5 |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Ataxia, Aplasia/Hypoplasia of the cerebel... |
OMIM:610188 |
Cone-Rod Dystrophy 8 |
|
Abnormality of retinal pigmentation, Epiphora |
OMIM:605549 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Cerebellar hypoplasia |
ORPHA:529665 |
Cln5 Disease |
|
Atrophy/Degeneration affecting the central nervous system, Cerebellar atrophy, Corpus callosum at... |
ORPHA:228360 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Arachnodactyly, Ataxia, Short stature, Abnormal thumb morphology, Crypt... |
ORPHA:2719 |
Autosomal Recessive Spastic Paraplegia Type 39 |
|
Cerebellar atrophy, Atrophy of the spinal cord |
ORPHA:139480 |
Multiple Sulfatase Deficiency |
|
Macrocephaly, Hydrocephalus, Microcephaly |
ORPHA:585 |
Oxoglutaric Aciduria |
|
Hydrocephalus |
ORPHA:31 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Small for gestational age, Coxa valga, Chorea, Tarsal sclerosis, Athetosis, Hyperkinetic movement... |
ORPHA:404454 |
Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Amyotrophic lateral sclerosis, Spasticity, Paralysis |
ORPHA:803 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Spinocerebellar Ataxia 29 |
|
Diffuse cerebellar atrophy, Cerebellar vermis hypoplasia, Cerebellar vermis atrophy |
OMIM:117360 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Cerebellar atrophy, Corpus callosum atrophy, Atrophy/Degeneration affecting the brainstem |
ORPHA:98673 |
Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus, Abnormal cerebellum morphology, Macrocephaly |
ORPHA:97339 |
Spinocerebellar Ataxia 25 |
|
Cerebellar atrophy |
OMIM:608703 |
17Q24.2 Microdeletion Syndrome |
|
Thick eyebrow, Failure to thrive in infancy, Hypertelorism, Synophrys, Upper limb undergrowth, Se... |
ORPHA:529962 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Cerebral atrophy |
ORPHA:79264 |
Mend Syndrome |
|
Hyperactivity, Failure to thrive, Abnormal auditory evoked potentials, Aggressive behavior, Hydro... |
ORPHA:401973 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Axonal degeneration |
OMIM:302800 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Overlapping toe, Short stature, Small for gestational age, Tapered finger, Hypertelorism, Cryptor... |
OMIM:309590 |
Chromosome 17Q12 Duplication Syndrome |
|
Deeply set eye, Broad thumb, Brachydactyly |
OMIM:614526 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Ataxia, Short stature, Tremor, Chorea, Athetosis, Hyperkinetic movements, Truncal... |
OMIM:615356 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:300894 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... |
OMIM:272750 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Ataxia, Tip-toe gait, Diff... |
OMIM:205100 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Cerebellar atrophy |
ORPHA:284324 |
Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy |
OMIM:617691 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Cerebellar atrophy, Microcephaly |
ORPHA:544503 |
Loeys-Dietz Syndrome 4 |
|
Torticollis, Arachnodactyly, Hypertelorism, Deeply set eye, Talipes equinovarus |
OMIM:614816 |
Desmosterolosis |
|
Microcephaly, Hydrocephalus, Macrocephaly, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:35107 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Aqueductal stenosis |
ORPHA:1788 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation, Agenesis of corpus... |
OMIM:257300 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Cerebral cortical atrophy |
OMIM:607694 |
Herpes Simplex Virus Stromal Keratitis |
|
Epiphora |
ORPHA:137599 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Thick eyebrow, Hypertelorism, Synophrys, Obesity, Deeply set eye, Truncal obesity, Short palm, Pr... |
ORPHA:466950 |
Stormorken Syndrome |
|
Deeply set eye, Short stature, Hypotelorism |
OMIM:185070 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Trichiasis, Sparse eyebrow, Deeply set eye, Radial deviation of finger, Thin eyebrow, Clinodactyly |
OMIM:609944 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Cerebellar atrophy, Macrocephaly, Cerebral cortical atrophy, Ventric... |
OMIM:617011 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebellar atrophy, Microcephaly, Hypoplasia of the pons, Olivopontocerebellar hypoplasia, Cerebr... |
ORPHA:468631 |
Khan-Khan-Katsanis Syndrome |
|
Cerebellar vermis hypoplasia, Tethered cord, Colpocephaly, Dysphagia, Failure to thrive, Ventricu... |
OMIM:618460 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Bilateral vocal cord paresis, Growth delay, Blotching pigmentation of the skin, Talipes equinovar... |
OMIM:614653 |
Shukla-Vernon Syndrome |
|
Cerebellar atrophy |
OMIM:301029 |
Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy |
OMIM:614867 |
Cole-Carpenter Syndrome 2 |
|
Hydrocephalus, Macrocephaly |
OMIM:616294 |
Pfeiffer Syndrome Type 3 |
|
Aqueductal stenosis, Chiari malformation |
ORPHA:93260 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Relative macrocephaly, Microcephaly, Hydrocephalus, Dilated third ventricle, Ventriculomegaly |
ORPHA:500055 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy |
OMIM:617145 |
Pfeiffer Syndrome Type 1 |
|
Aqueductal stenosis |
ORPHA:93258 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Short stature, Hydrocephalus, Genu valgum, Deeply set eye, Abdominal obesity, Hypoplasi... |
OMIM:619321 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Cerebellar hypoplasia, Brain atrophy, Inferior cerebellar vermis hypoplasia, ... |
OMIM:620327 |
Carcinoid Syndrome |
|
Epiphora |
ORPHA:100093 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cerebellar atrophy, Microcephaly |
OMIM:618186 |
Medulloblastoma |
|
Hydrocephalus, Progressive macrocephaly, Cerebellar calcifications, Cerebellar cyst |
ORPHA:616 |
Takenouchi-Kosaki Syndrome |
|
Cerebellar atrophy, Ventriculomegaly, Cerebellar hypoplasia, Cerebral cortical atrophy, Progressi... |
OMIM:616737 |
Galloway-Mowat Syndrome 1 |
|
Cerebellar atrophy, Microcephaly, Cerebral atrophy, Hypoplasia of the brainstem, Secondary microc... |
OMIM:251300 |
Spinocerebellar Ataxia Type 8 |
|
Hypoplasia of the pons, Cerebellar atrophy, Cerebellar vermis atrophy |
ORPHA:98760 |
Tbck-Related Intellectual Disability Syndrome |
|
Broad toe, Thick eyebrow, Cryptorchidism, Synophrys, 2-3 toe syndactyly, Deeply set eye, Broad fi... |
ORPHA:488632 |
Tetrasomy 5P |
|
Hydrocephalus, Cerebellar hypoplasia, Macrocephaly |
ORPHA:3309 |
X-Linked Progressive Cerebellar Ataxia |
|
Cerebellar vermis atrophy |
ORPHA:1175 |
Microcephaly-Micromelia Syndrome |
|
Aqueductal stenosis, Microcephaly |
OMIM:251230 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Biparietal narrowing, Macro... |
ORPHA:1454 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Ataxia, Obesity, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
Developmental And Epileptic Encephalopathy 2 |
|
Tapered finger, Small hand, Short foot, Deeply set eye, Myoclonus |
OMIM:300672 |
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome |
|
Deeply set eye, Failure to thrive, Ataxia, Hypertelorism |
ORPHA:412069 |
Sturge-Weber Syndrome |
|
Hydrocephalus, Chiari malformation, Cerebral cortical atrophy, Macrocephaly |
ORPHA:3205 |
48,Xxxy Syndrome |
|
Obesity, Irritability, Attention deficit hyperactivity disorder, Abnormal social behavior, Abnorm... |
ORPHA:96263 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Cerebellar vermis atrophy |
ORPHA:466794 |
Gorlin Syndrome |
|
Hydrocephalus |
ORPHA:377 |
Holoprosencephaly 7 |
|
Microcephaly, Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, L... |
OMIM:610828 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Periodic paralysis |
OMIM:188580 |
Spastic Ataxia 5, Autosomal Recessive |
|
Cerebellar atrophy |
OMIM:614487 |
Cerebellofaciodental Syndrome |
|
Microcephaly, Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the midbrain, Ventricu... |
OMIM:616202 |
Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Short stature, Hypertelorism, Periodic paralysis, Small hand, 2-... |
ORPHA:37553 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Hydrocephalus, Macrocephaly |
ORPHA:2969 |
Thanatophoric Dysplasia, Type I |
|
Hydrocephalus, Macrocephaly |
OMIM:187600 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Cerebellar atrophy, Abnormal cerebellum morphology |
OMIM:275900 |
Fanconi Anemia, Complementation Group B |
|
Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:300514 |
Superficial Siderosis |
|
Cerebellar atrophy, Enlarged sylvian cistern, Abnormal cerebrospinal fluid morphology, Atrophy of... |
ORPHA:247245 |
Neonatal Lupus Erythematosus |
|
Hydrocephalus, Macrocephaly |
ORPHA:398124 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Axonal degeneration |
OMIM:208920 |
Jaberi-Elahi Syndrome |
|
Cerebellar vermis atrophy, Substantia nigra hypointensity on susceptibility-weighted imaging, Dan... |
OMIM:617988 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Small hand, Obesity, Pri... |
ORPHA:398079 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Cerebral atrophy |
OMIM:619405 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Cerebellar atrophy, Cerebral cortical atrophy, Microcephaly |
OMIM:619576 |
Neurotrophic Keratopathy |
|
Lacrimation abnormality |
ORPHA:137596 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy |
ORPHA:284289 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Sparse axillary hair, Testicular neoplasm, Sparse pubic hair, Bilateral cryptor... |
ORPHA:99429 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Ataxia, Tremor, Obesity, Myoclonus, Hypopigmentation of the skin, Iris ... |
ORPHA:98794 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Cerebellar gliosis |
OMIM:616505 |
Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy |
OMIM:606658 |
Apert Syndrome |
|
Hydrocephalus, Chiari malformation, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:87 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Short stature, Small for gestational age, Cryptorc... |
ORPHA:464306 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short metacarpal, Toe syndactyly, Short stature, Hypertelorism, Periodic paralysis, Short metatar... |
OMIM:170390 |
Developmental And Epileptic Encephalopathy 95 |
|
Cerebellar atrophy, Microcephaly, Hypoplasia of the pons, Cerebral atrophy, Cerebral cortical atr... |
OMIM:618143 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Slender build, Small for gestational age, Spina bifida, Hydrocephalus, Optic atrophy, Dural ectas... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Slender build, Small for gestational age, Spina bifida, Hydrocephalus, Optic atrophy, Dural ectas... |
ORPHA:363958 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Chiari type II malformation, Hydrocephalus, Spina bifida occulta, Myelomeningocele |
OMIM:613686 |
Adenylosuccinase Deficiency |
|
Cerebellar atrophy, Cerebral atrophy, Microcephaly |
OMIM:103050 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Cerebellar vermis atrophy |
OMIM:616719 |
Coffin-Siris Syndrome 12 |
|
Sparse scalp hair, Short stature, Highly arched eyebrow, Hypertelorism, Short thumb, Slender fing... |
OMIM:619325 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Cerebellar atrophy, Cerebellar hypoplasia, Cerebral atrophy, Macrocephaly |
OMIM:615398 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus, Macrocephaly |
OMIM:259700 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypertonia, Multiple cafe-au-lait spots, Fr... |
ORPHA:3214 |
Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy |
OMIM:608768 |
Posterior Polymorphous Corneal Dystrophy |
|
Lacrimation abnormality |
ORPHA:98973 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Lateral ventricle dilatation, Cerebellar hypoplasia |
OMIM:300896 |
3-Methylglutaconic Aciduria, Type Viia |
|
Cerebellar atrophy, Secondary microcephaly |
OMIM:619835 |
Pfeiffer Syndrome |
|
Hydrocephalus, Chiari malformation |
OMIM:101600 |
Griscelli Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:381 |
16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Optic nerve hypoplasia, Ventriculomegaly, Dysphagia |
ORPHA:261250 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Cerebellar atrophy, Increased CSF protein concentration |
OMIM:258450 |
Genitopalatocardiac Syndrome |
|
Hydrocephalus, Microcephaly |
ORPHA:2075 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
15Q Overgrowth Syndrome |
|
Hydrocephalus, Brain atrophy, Macrocephaly, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:314585 |
Wiedemann-Rautenstrauch Syndrome |
|
Tremor, Synophrys, Deeply set eye, Hypertonia, Sparse hair, Agenesis of corpus callosum, Long toe... |
ORPHA:3455 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Periodic paralysis |
OMIM:170400 |
Spinocerebellar Ataxia 34 |
|
Cerebellar atrophy, Cerebral cortical atrophy |
OMIM:133190 |
Congenital Disorder Of Deglycosylation 1 |
|
Involuntary movements, Hypertelorism, Chorea, Small hand, Dysmetria, Short foot, Athetosis, Hyper... |
OMIM:615273 |
Zttk Syndrome |
|
Curly hair, Short stature, Sparse eyebrow, Dysplastic corpus callosum, Small hand, Short foot, De... |
OMIM:617140 |
Epithelial Recurrent Erosion Dystrophy |
|
Epiphora |
ORPHA:293381 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Aganglionic megaco... |
ORPHA:261537 |
Williams Syndrome |
|
Tremor, Hypoplastic toenails, Dysmetria, Clinodactyly of the 5th finger, Spina bifida occulta, At... |
ORPHA:904 |
Icf Syndrome |
|
Communicating hydrocephalus, Macrocephaly |
ORPHA:2268 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Deeply set eye |
OMIM:305390 |
Achondroplasia |
|
Hydrocephalus, Macrocephaly |
ORPHA:15 |
Mepan Syndrome |
|
Cerebellar atrophy, Cerebral atrophy |
ORPHA:508093 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Graft Versus Host Disease |
|
Failure to thrive, Decreased lacrimation |
ORPHA:39812 |
Foodborne Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:228371 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:615491 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Cerebellar atrophy, Cerebral atrophy |
OMIM:268020 |
Scalp-Ear-Nipple Syndrome |
|
Lateral ventricle dilatation |
OMIM:181270 |
Tetraamelia-Multiple Malformations Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:3301 |
Leigh Syndrome |
|
Cerebellar atrophy, Abnormal brainstem MRI signal intensity, Focal T2 hyperintense brainstem lesi... |
ORPHA:506 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Hydrocephalus |
OMIM:314390 |
Nasolacrimal Duct Cyst |
|
Epiphora |
ORPHA:141083 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
ORPHA:157 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
Congenital Myopathy 22B, Severe Fetal |
|
Tapered toe, Synophrys, Deeply set eye, Proptosis, Frequent falls |
OMIM:620369 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353277 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Paralysis, Abnormal eyelash morphology, Rigidity, Tetraplegia, Hemiparesis, Hypertonia,... |
ORPHA:2396 |
Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Chorea, Ventriculomegaly |
ORPHA:1855 |
Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Ataxia, Gait disturbance, Molar tooth sign on MRI, Failure to thrive |
ORPHA:2754 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Short stature, Small for gestational age... |
ORPHA:98754 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Global brain atrophy, Cerebellar atrophy, Ventriculomegaly, Microcephaly |
OMIM:620066 |
X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy |
ORPHA:93952 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Chiari malformation, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:123790 |
Ogden Syndrome |
|
Torticollis, Broad hallux, Sandal gap, Short stature, Hypertelorism, Sparse eyebrow, Long fingers... |
OMIM:300855 |
Trisomy 17P |
|
Hydrocephalus, Microcephaly |
ORPHA:261290 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia |
OMIM:601374 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Cerebellar atrophy, Secondary microcephaly |
OMIM:619685 |
Mucopolysaccharidosis, Type Ii |
|
Hydrocephalus, Neurodegeneration, Macrocephaly |
OMIM:309900 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Failure to thrive, Small for gestational age, Tapered finger, Cryptorchidism, Short toe, Short fo... |
ORPHA:464311 |
Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:228308 |
Familial Or Sporadic Hemiplegic Migraine |
|
Cerebellar atrophy, CSF pleocytosis, Increased CSF protein concentration, CSF lymphocytic pleiocy... |
ORPHA:569 |
Tay-Sachs Disease |
|
Global brain atrophy, Cerebellar atrophy, Progressive macrocephaly, Ventriculomegaly |
ORPHA:845 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Hypertelorism, Synophrys, Poor coordination, Obesity, Deeply set eye, Short palm, Brachydactyly |
ORPHA:466943 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Increased CSF lactate, Cerebral atrophy, Microcephaly |
OMIM:616271 |
Faundes-Banka Syndrome |
|
Sparse scalp hair, Hypertelorism, Hypoplastic toenails, Cryptorchidism, Deeply set eye, Delayed p... |
OMIM:619376 |
Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus, Cerebral cortical atrophy |
ORPHA:1834 |
Congenital Sialidosis Type 2 |
|
Hydrocephalus, Macrocephaly |
ORPHA:93400 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Macrocephaly, Dandy-Walker malformati... |
OMIM:605627 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Failure to thrive in infancy, Primary amenorrhea, Growth delay, Deeply set eye, Failure to thrive... |
OMIM:619418 |
Czeizel-Losonci Syndrome |
|
Hydrocephalus, Spina bifida occulta, Myelomeningocele, Spina bifida |
ORPHA:2437 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Short stature, Small for gestational age... |
ORPHA:98793 |
Stüve-Wiedemann Syndrome |
|
Bowing of the long bones, Lacrimation abnormality, Camptodactyly of finger, Micromelia, Short sta... |
ORPHA:3206 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Overlapping toe, Failure to thrive in infancy, Hypertelorism, Generalized hypertric... |
ORPHA:798 |
Chromosome 16P13.3 Duplication Syndrome |
|
Sandal gap, Rocker bottom foot, Proximal placement of thumb, Hypertelorism, Tapered finger, Short... |
OMIM:613458 |
Lowry-Maclean Syndrome |
|
Hydrocephalus, Microcephaly |
ORPHA:2409 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Abnormal cerebellum morphology, Hydrocephalus, C... |
ORPHA:2356 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Deeply set eye, Ataxia, Thick eyebrow |
OMIM:620047 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Short stature, Small for gestational age... |
ORPHA:177904 |
Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, Deeply set eye, Short palm, Shallow orbits, Clinodactyly of the 5th ... |
OMIM:613406 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Short stature, Small for gestational age... |
ORPHA:177901 |
Ctcf-Related Neurodevelopmental Disorder |
|
Broad hallux phalanx, Sandal gap, Small for gestational age, Highly arched eyebrow, Hypertelorism... |
ORPHA:363611 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus |
ORPHA:1237 |
Episodic Ataxia Type 1 |
|
Cerebellar atrophy |
ORPHA:37612 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Cerebellar atrophy, Cerebellar vermis atrophy |
OMIM:614575 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Highly arched eyebrow, Cryptorchidism, Increased femoral anteversion, Long eyelashes, Decreased b... |
OMIM:619005 |
Glioblastoma |
|
Paralysis |
ORPHA:360 |
Autosomal Recessive Ataxia, Beauce Type |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem |
ORPHA:88644 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Abnormal cerebellum morphology, Secondary microcephaly |
OMIM:618056 |
Spinocerebellar Ataxia 5 |
|
Cerebellar atrophy, Cerebellar hypoplasia |
OMIM:600224 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Ataxia, Short stature, Small for gestational age, Tapered finger, Abnormal toe mor... |
ORPHA:268261 |
Arboleda-Tham Syndrome |
|
Brachydactyly, Sandal gap, Deviation of the hallux, Short hallux, Highly arched eyebrow, Bilatera... |
OMIM:616268 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Aganglionic megaco... |
ORPHA:261552 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Cerebellar atrophy, Neuronal loss in central nervous system, Microcephaly |
OMIM:300243 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Decreased lacrimation |
OMIM:616488 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Cerebellar vermis atrophy |
OMIM:614381 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Olivopontocerebellar hypoplasia |
ORPHA:457284 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Deeply set eye, Ventriculomegaly |
OMIM:618343 |
Slc39A8-Cdg |
|
Cerebellar atrophy, Cerebral cortical atrophy, Ventriculomegaly, Increased CSF lactate |
ORPHA:468699 |
Hec Syndrome |
|
Communicating hydrocephalus |
ORPHA:2119 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebellar vermis hypoplasia, Microcephaly |
ORPHA:543470 |
6Q Terminal Deletion Syndrome |
|
Obesity, Dysmetria, Gait ataxia, Colpocephaly, Cerebellar hypoplasia, Failure to thrive |
ORPHA:75857 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Broad hallux, 2-3 toe syndactyly, Deeply set eye, Joint contracture of the 5th finger, Sparse hai... |
OMIM:619934 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Hydrocephalus, Microcephaly |
ORPHA:1865 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Large for gestational age, Tibial bowing, Deeply set eye, Short tibia, Small proximal tibial epip... |
ORPHA:96334 |
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Alacrima |
OMIM:240000 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Highly arched eyeb... |
ORPHA:572333 |
Autosomal Spastic Paraplegia Type 58 |
|
Cerebellar atrophy, Cerebral atrophy, Microcephaly |
ORPHA:397946 |
Alpha-Mannosidosis, Adult Form |
|
Cerebellar atrophy, Subcortical cerebral atrophy, Cerebral cortical atrophy |
ORPHA:309288 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
ORPHA:3412 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Cerebellar atrophy, Cerebral atrophy |
OMIM:616266 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Absent eyelashes, Short thumb, Partial duplication of thumb phalanx, Alacrima |
OMIM:620193 |
Short Stature-Micrognathia Syndrome |
|
Cerebellar atrophy, Microcephaly |
OMIM:617164 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Cerebellar atrophy, Hippocampal atrophy, Cerebral atrophy, Microcephaly |
OMIM:618922 |
3Q27.3 Microdeletion Syndrome |
|
Deeply set eye, Arachnodactyly |
ORPHA:397695 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Hypertelorism, Abnormal thumb morphology, Metatarsus adductus, Large for gestational age, Tibial ... |
ORPHA:500095 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Corpus callosum atrophy, Cerebral atrophy |
ORPHA:168491 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Short stature, Cryptorchidism, Small hand, Increased body weight, Prima... |
ORPHA:398069 |
3-Methylglutaconic Aciduria Type 7 |
|
Cerebellar atrophy, Cerebral atrophy, Primary microcephaly |
ORPHA:445038 |
D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Corpus callosum atrophy, Ventriculomegaly, Macrocephaly |
OMIM:261515 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Alacrima, High anterior hairline, Ataxia, Spasticity |
OMIM:615510 |
Autosomal Recessive Spastic Paraplegia Type 78 |
|
Cerebellar atrophy, Cerebral cortical atrophy |
ORPHA:513436 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida, Macrocephaly |
OMIM:162200 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocephalus, Diffuse cerebral atrophy, Spina bifida, Microcephaly |
OMIM:613776 |
Achondroplasia |
|
Brain stem compression, Hydrocephalus, Macrocephaly |
OMIM:100800 |
Monosomy 9Q22.3 |
|
Hydrocephalus, Chiari malformation, Ventriculomegaly, Macrocephaly |
ORPHA:77301 |
1P36 Deletion Syndrome |
|
Abnormal eyebrow morphology, Short stature, Camptodactyly of finger, Hemiplegia/hemiparesis, Cryp... |
ORPHA:1606 |
Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus |
OMIM:259710 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short metacarpal, Brachydactyly, Short stature, Hypertelorism, Short metatarsal, Obesity, Deeply ... |
OMIM:617157 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy |
ORPHA:98764 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, Highly arched eyebrow, ... |
OMIM:612474 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology, Aggressive behavior, Impaired pain sensation, Obesity, Depression, ... |
ORPHA:293987 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebellar atrophy, Cerebral cortical atrophy, Ventriculomegaly, Microcephaly |
OMIM:301072 |
Distal 22Q11.2 Microduplication Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Tapered finger, Hypertelorism, Hypoplastic toenails, Hyd... |
ORPHA:261337 |
Familial Paroxysmal Ataxia |
|
Cerebellar vermis atrophy |
ORPHA:97 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:614615 |
Spinocerebellar Ataxia 47 |
|
Cerebellar vermis atrophy |
OMIM:617931 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Trichorrhexis nodosa, Breast aplasia, Generalized hypo... |
ORPHA:238468 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Hydrocephalus, Cerebral cortical atrophy |
OMIM:239300 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Neurodegeneration, Microcephaly |
OMIM:615919 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cerebellar atrophy |
OMIM:619780 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Hydrocephalus, Macrocephaly |
OMIM:616482 |
Mannosidosis, Alpha B, Lysosomal |
|
Cerebellar atrophy, Corpus callosum atrophy, Cerebral cortical atrophy, Macrocephaly |
OMIM:248500 |
Spinocerebellar Ataxia Type 19/22 |
|
Cerebellar atrophy |
ORPHA:98772 |
Tuberous Sclerosis Complex |
|
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Noncommunicating... |
ORPHA:805 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cerebellar atrophy |
OMIM:612674 |
Alacrima, Congenital, Autosomal Recessive |
|
Alacrima |
OMIM:601549 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Agenesis of corpus callosum, Colpocephaly, Microcephaly |
OMIM:309801 |
Plaa-Associated Neurodevelopmental Disorder |
|
Cerebellar cortical atrophy, Ventriculomegaly, Microcephaly |
ORPHA:521426 |
Tsh-Secreting Pituitary Adenoma |
|
Abnormal hair quantity, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadi... |
ORPHA:91347 |
Monosomy 18Q |
|
Cerebellar hypoplasia, Hydrocephalus, Biparietal narrowing, Microcephaly |
ORPHA:1600 |
Osteopetrosis, Autosomal Recessive 5 |
|
Cerebral atrophy, Hydrocephalus, Ventriculomegaly, Microcephaly |
OMIM:259720 |
Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy |
ORPHA:98771 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Colpocephaly |
OMIM:620113 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Cerebellar gliosis |
ORPHA:35069 |
White-Sutton Syndrome |
|
Cerebellar atrophy, Microcephaly, Hypoplasia of the pons, Subcortical cerebral atrophy, Cerebral ... |
ORPHA:468678 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia |
OMIM:620089 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Occipital meningocele, Failure to thrive, ... |
OMIM:277170 |
Orofaciodigital Syndrome I |
|
Microcephaly, Hydrocephalus, Myelomeningocele, Cerebral atrophy, Hypothalamic hamartoma, Agenesis... |
OMIM:311200 |
Cockayne Syndrome Type 3 |
|
Dry hair, Mild postnatal growth retardation, Premature graying of hair, Deeply set eye, Intention... |
ORPHA:90324 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly |
ORPHA:2166 |
Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Microcephaly, Hydrocephalus, Anencephaly, Chia... |
OMIM:249000 |
Laryngeal Abductor Paralysis |
|
Vocal cord paralysis, Talipes equinovarus |
OMIM:150260 |
Ataxia-Oculomotor Apraxia 3 |
|
Cerebellar atrophy |
OMIM:615217 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Cerebellar vermis atrophy, Microcephaly |
OMIM:617101 |
Mevalonic Aciduria |
|
Cerebellar atrophy, Agenesis of cerebellar vermis, Cerebral atrophy, Microcephaly |
OMIM:610377 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Hydrocephalus |
OMIM:601499 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebellar atrophy, Corpus callosum atrophy, Pontocerebellar atrophy, Atrophy/Degeneration affect... |
ORPHA:171629 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Dry hair, Hypopigmentation of hair, Short stature, Hypertelorism, Widow's peak... |
ORPHA:1974 |
Hurler Syndrome |
|
Hydrocephalus, Neurodegeneration, Macrocephaly |
OMIM:607014 |
Primary Ciliary Dyskinesia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:244 |
Iniencephaly |
|
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Cerebellar atrophy, Subcortical cerebral atrophy, Chiari malformatio... |
ORPHA:309282 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Secondary microcephaly |
ORPHA:485421 |
Mucopolysaccharidosis, Type Vii |
|
Hydrocephalus, Neurodegeneration, Macrocephaly |
OMIM:253220 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Short stature, Small for gestational age, Hypertelorism, ... |
ORPHA:84064 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Loss of Purkinje cells in the cerebellar vermis, Pontine T2 hypointensity, Cerebellar vermis atrophy |
OMIM:270550 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus |
OMIM:224400 |
Floating-Harbor Syndrome |
|
Brachydactyly, Ivory epiphyses of the distal phalanges of the hand, Short stature, Short middle p... |
OMIM:136140 |
Gracile Bone Dysplasia |
|
Hydrocephalus |
OMIM:602361 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Abnormal thumb morphology, Duplication of thumb phalanx, Alacrima |
OMIM:620192 |
Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Diffuse cerebral atrophy |
OMIM:300623 |
Apert Syndrome |
|
Hydrocephalus, Chiari type I malformation, Cerebellar hypoplasia, Agenesis of corpus callosum, Ve... |
OMIM:101200 |
Opitz-Kaveggia Syndrome |
|
Relative macrocephaly, Hydrocephalus, Postnatal macrocephaly, Partial agenesis of the corpus call... |
OMIM:305450 |
Degcags Syndrome |
|
Synophrys, Low anterior hairline, Vocal cord paralysis, Hypotelorism, Premature graying of hair, ... |
OMIM:619488 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Cryptorchidism, Blue irides, Hypopigmented skin patches, Prematur... |
OMIM:613266 |
Lateral Meningocele Syndrome |
|
Chiari type I malformation, Hydrocephalus, Meningocele |
OMIM:130720 |
Familial Dysautonomia |
|
Growth delay, Ataxia, Heterochromia iridis, Alacrima |
ORPHA:1764 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Cerebellar atrophy, Atrophy of the spinal cord, Cerebellar vermis atrophy |
ORPHA:329308 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Cerebellar atrophy, Cerebral cortical atrophy |
ORPHA:420492 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Short stature, Cryptorchidism, Small hand, Primary amenorrhea, Short fo... |
ORPHA:739 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Chiari malformation, Holoprosencephaly, Attention defic... |
OMIM:618820 |
Alacrima, Congenital, Autosomal Dominant |
|
Alacrima, Decreased lacrimation |
OMIM:103420 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Secondary microcephaly, Cerebral cortical atrophy, Primary microcephaly |
ORPHA:496641 |
Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Neonatal Marfan Syndrome |
|
Long toe, Arachnodactyly, Small for gestational age, Long fingers, Deeply set eye, Decreased test... |
ORPHA:284979 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Macrocephaly, Hypoglycorrhachia, Microcephaly |
ORPHA:168577 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cerebellar atrophy, Microcephaly, Cerebral atrophy, Extra-axial cerebrospinal fluid accumulation,... |
OMIM:618426 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus, Cerebral cortical atrophy, Microcephaly |
OMIM:277400 |
Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Ataxia, Tremor, Silver-gray hair, Ocular albinism, Giant melanosomes in... |
OMIM:214500 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
Cardiofaciocutaneous Syndrome 1 |
|
Relative macrocephaly, Hydrocephalus, Cerebral cortical atrophy, Macrocephaly |
OMIM:115150 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Cerebellar atrophy |
OMIM:609270 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Deeply set eye, Hammertoe, Pilomatrixoma |
OMIM:620189 |
Joubert Syndrome 38 |
|
Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia |
OMIM:619476 |
Thyrotoxic Periodic Paralysis |
|
Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic... |
ORPHA:79102 |
Distal Triplication 15Q |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:314588 |
Cardiofaciocutaneous Syndrome |
|
Hydrocephalus, Cerebral cortical atrophy, Biparietal narrowing, Macrocephaly |
ORPHA:1340 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus, Microcephaly |
ORPHA:220295 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Cerebellar atrophy, Secondary microcephaly, Cerebellar hypoplasia |
OMIM:618329 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus |
ORPHA:1064 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cervical cord co... |
ORPHA:353281 |
Marden-Walker Syndrome |
|
Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus callosum, Abnormal cerebel... |
ORPHA:2461 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paralysis |
OMIM:612300 |
Vici Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism, Hypertelorism, Postnatal growth... |
OMIM:242840 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Cerebellar vermis atrophy, Dandy-Walker malformation, Microcephaly |
OMIM:156610 |
Spinocerebellar Ataxia 36 |
|
Cerebellar atrophy |
OMIM:614153 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Cerebellar atrophy |
OMIM:604391 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hydrocephalus |
OMIM:619951 |
Monosomy 22Q13.3 |
|
Hypoplastic toenails, Obesity, Deeply set eye, Large hands, Long eyelashes, Clinodactyly of the 5... |
ORPHA:48652 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Cerebellar atrophy, Cerebral atrophy, Progressive microcephaly, Primary microcephaly |
OMIM:608779 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Fasciculations |
ORPHA:682 |
Crouzon Syndrome |
|
Hydrocephalus |
OMIM:123500 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Cerebellar atrophy |
OMIM:618598 |
Developmental And Epileptic Encephalopathy 89 |
|
Cerebellar atrophy, Cerebral atrophy, Macrocephaly |
OMIM:619124 |
Pelizaeus-Merzbacher Disease |
|
Cerebellar vermis atrophy, Global brain atrophy, Microcephaly |
OMIM:312080 |
Trichothiodystrophy |
|
Microcephaly, Partial agenesis of the corpus callosum, Diffuse cerebellar atrophy, Cerebral corti... |
ORPHA:33364 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Obesity |
OMIM:609734 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Cerebellar cyst,... |
OMIM:253280 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Agenesis of corpus callosum |
ORPHA:1780 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Arachnodactyly, Short stature, Abnormality of hair texture, Cryptorchidism |
ORPHA:96169 |
8Q24.3 Microdeletion Syndrome |
|
Long toe, Infancy onset short-trunk short stature, Short femur, Short stature, Rocker bottom foot... |
ORPHA:508488 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:268249 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Short stature, Small for gestational age, Absen... |
OMIM:227650 |
Kabuki Syndrome 1 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:147920 |
Deeah Syndrome |
|
Short stature, Cryptorchidism, Low posterior hairline, Decreased body weight, Overlapping fingers... |
OMIM:619004 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:617260 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Brittle hair, Short stature, Highly arched eyebrow, Tape... |
OMIM:619539 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy |
OMIM:607426 |
Heterotaxy, Visceral, 1, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Cerebellar hypoplasia, Failure to thrive |
OMIM:306955 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Relative macrocephaly, Encephalocele, Cerebellar hypoplasia, Molar tooth sign on MRI, Dandy-Walke... |
OMIM:616300 |
Dystonia-Aphonia Syndrome |
|
Cerebellar atrophy, Cerebral atrophy |
ORPHA:412217 |
Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy |
OMIM:603516 |
Fraser Syndrome 3 |
|
Hydrocephalus, Stillbirth |
OMIM:617667 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Short stature, Small for gestational age, Hypotelorism, Growth delay, Deeply set eye, Intrauterin... |
OMIM:613658 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Sparse scalp hair, Short metacarpal, Syndactyly, Mild postnatal growth retardation, Coxa valga, A... |
OMIM:150230 |
Thauvin-Robinet-Faivre Syndrome |
|
Bowing of the legs, Hypertelorism, Large for gestational age, Deeply set eye, Large hands, Long h... |
OMIM:617107 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Growth delay, Incoordination, Alacrima |
OMIM:223900 |
Primrose Syndrome |
|
Sparse scalp hair, Ataxia, Absent facial hair, Hypergonadotropic hypogonadism, Hypertelorism, Met... |
OMIM:259050 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Cerebellar atrophy, Microcephaly, Dandy-Walker malformation, Ventriculomegaly, Cerebellar dysplasia |
ORPHA:487796 |
Adams-Oliver Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:974 |
Inhalational Botulism |
|
Paralysis |
ORPHA:254504 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Failure to thrive, Lateral ventricle dilatation |
OMIM:619534 |
Episodic Ataxia, Type 2 |
|
Cerebellar vermis atrophy |
OMIM:108500 |
Lathosterolosis |
|
Microcephaly, Meningocele, Chiari malformation, Biparietal narrowing, Cerebellar cortical atrophy |
ORPHA:46059 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Chiari type I malformation, Hydrocephalus, Microcephaly |
OMIM:182212 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Menometrorrhagia, Partial albinism, Ocular albinism, Melanocytic nevus,... |
ORPHA:79430 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Hydrocephalus, Chiari malformation |
OMIM:618162 |
Spinocerebellar Ataxia 21 |
|
Cerebellar atrophy |
OMIM:607454 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Paralysis |
ORPHA:83601 |
Knobloch Syndrome 1 |
|
Cerebellar atrophy, Occipital encephalocele, Microcephaly, Cerebral atrophy, Occipital meningocel... |
OMIM:267750 |
Spinocerebellar Ataxia Type 10 |
|
Cerebellar atrophy |
ORPHA:98761 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Alacrima |
OMIM:300858 |
Kilquist Syndrome |
|
2-3 toe syndactyly, Alacrima, Coxa valga |
OMIM:619080 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Deeply set eye, Ataxia, Talipes equinovarus |
OMIM:616393 |
Tetrasomy 9P |
|
Hypertelorism, Pilomatrixoma, Hydrocephalus, Cryptorchidism, Small hand, Oligozoospermia, Deeply ... |
ORPHA:3310 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Clinodactyly, Alacrima, Tapered finger |
OMIM:615560 |
Spinocerebellar Ataxia 6 |
|
Cerebellar atrophy, Cerebral cortical atrophy |
OMIM:183086 |
Poliomyelitis |
|
Paraparesis, Hyperkinetic movements, Fasciculations, Paralysis |
ORPHA:2912 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Porphyria, Acute Intermittent |
|
Respiratory paralysis, Paralysis |
OMIM:176000 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Microcephaly, Partial agenesis of the corpus callosum, Molar tooth sign... |
ORPHA:434179 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... |
ORPHA:90793 |
Peroxisome Biogenesis Disorder 6B |
|
Cerebellar atrophy |
OMIM:614871 |
Functioning Gonadotropic Adenoma |
|
Hydrocephalus |
ORPHA:91348 |
Spinocerebellar Ataxia Type 21 |
|
Cerebellar vermis atrophy |
ORPHA:98773 |
Smith-Lemli-Opitz Syndrome |
|
Cerebellar atrophy, Hyperactivity, Aganglionic megacolon, Aggressive behavior, Hydrocephalus, Par... |
OMIM:270400 |
Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy |
OMIM:602481 |
Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Anencephaly |
ORPHA:1335 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Macrocephaly at birth, Partial absence of cerebellar vermis, Cerebellar atrophy, Ventriculomegaly |
ORPHA:280633 |
Gitelman Syndrome |
|
Ataxia, Paralysis, Growth delay, Delayed puberty, Failure to thrive |
OMIM:263800 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Hypoplasia of the pons, Cerebellar atrophy, Cerebellar hypoplasia |
OMIM:619708 |
Acrofacial Dysostosis 1, Nager Type |
|
Aqueductal stenosis, Hydrocephalus, Microcephaly |
OMIM:154400 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Broad skull, Hydrocephalus, Cerebellar hypoplasia, Microcephaly |
ORPHA:163979 |
Familial Infantile Myoclonic Epilepsy |
|
Cerebellar atrophy |
ORPHA:352582 |
Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
Bloom Syndrome |
|
Male infertility, Premature ovarian insufficiency, Sparse eyelashes, Small for gestational age, P... |
ORPHA:125 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Medial flaring of the eyebrow, Hyperextensibility of the finger joints, Sparse scalp hair, Thick ... |
OMIM:619503 |
Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Anencephaly, Holoprosencephaly, Macrocephaly |
OMIM:269860 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract |
OMIM:600145 |
Jacobsen Syndrome |
|
Macrocephaly, Hydrocephalus, Holoprosencephaly, Microcephaly |
OMIM:147791 |
Mucopolysaccharidosis Type 1 |
|
Hydrocephalus, Macrocephaly |
ORPHA:579 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Cerebral atrophy |
OMIM:616084 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Chiari malformation, Ventriculomegaly, Microcephaly |
ORPHA:2462 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Cachexia, Paralysis, Hydrocephalus, Spastic paraplegia, Limb ataxia, Growth delay,... |
ORPHA:2072 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Hypertonia, Holoprosencephaly, Finger syndactyly, Rhizomelia, Short ... |
ORPHA:818 |
Whipple Disease |
|
Hydrocephalus |
ORPHA:3452 |
Spinocerebellar Ataxia 27A |
|
Cerebellar atrophy |
OMIM:193003 |
Cholera |
|
Deeply set eye |
ORPHA:173 |
Brittle Cornea Syndrome 1 |
|
Red hair |
OMIM:229200 |
Paramyotonia Congenita Of Von Eulenburg |
|
Periodic hypokalemic paresis |
ORPHA:684 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hydrocephalus |
ORPHA:1555 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corp... |
OMIM:615948 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Cerebellar atrophy, Cerebral atrophy, Macrocephaly |
OMIM:614080 |
Isotretinoin-Like Syndrome |
|
Hydrocephalus, Microcephaly |
ORPHA:2306 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Hydrocephalus, Myelomeningocele, Cerebellar hypoplasia |
ORPHA:90652 |
Osteopathia Striata With Cranial Sclerosis |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Spina bifida occulta, Macrocephaly |
OMIM:300373 |
Histiocytoid Cardiomyopathy |
|
Cerebellar malformation, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:137675 |
Holoprosencephaly 9 |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Holoprosencephaly, Microcephaly |
OMIM:610829 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy |
OMIM:128100 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus |
OMIM:207410 |
Fanconi Anemia, Complementation Group D2 |
|
Hydrocephalus, Agenesis of corpus callosum, Microcephaly |
OMIM:227646 |
East Syndrome |
|
Cerebellar atrophy |
ORPHA:199343 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Alacrima |
ORPHA:289483 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Colpocephaly, Agenesis o... |
OMIM:301043 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Diffuse cerebellar atrophy |
ORPHA:247815 |
African Trypanosomiasis |
|
Alopecia, Abnormal central motor function, Involuntary movements, Paralysis, Tremor, Myelopathy, ... |
ORPHA:3385 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly |
OMIM:313850 |
Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus, Abnormal cerebellum morphology, Brain stem compression |
ORPHA:637 |
Mirage Syndrome |
|
Hydrocephalus |
OMIM:617053 |
Aymé-Gripp Syndrome |
|
Chiari type I malformation, Hydrocephalus, Cerebral cortical atrophy, Ventriculomegaly |
ORPHA:1272 |
Marshall-Smith Syndrome |
|
Hydrocephalus, Cerebral atrophy, Cerebellar hypoplasia, Agenesis of corpus callosum, Ventriculome... |
OMIM:602535 |
17Q11 Microdeletion Syndrome |
|
Abnormal central motor function, Short stature, Hypermelanotic macule, Bowing of the legs, Hypert... |
ORPHA:97685 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Microcephaly, Progressive macrocephaly, Increased CSF lactate, Increased CSF ... |
OMIM:252010 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Atrophy of the spinal cord, Hydrocephalus, Cerebral atrophy, Microcephaly |
ORPHA:79282 |
Hypoplasminogenemia |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Epiphora |
OMIM:122000 |
Floating-Harbor Syndrome |
|
Speech apraxia, Short metacarpal, Brachydactyly, Short stature, Small for gestational age, Avascu... |
ORPHA:2044 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Hypertelorism, Deeply set eye, Pigmentary retinopathy, Failure to thrive,... |
OMIM:118450 |
Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy |
ORPHA:98768 |
Semilobar Holoprosencephaly |
|
Microcephaly, Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, Macrocephaly, Age... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Microcephaly, Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, Macrocephaly, Age... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Microcephaly, Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, Macrocephaly, Age... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Microcephaly, Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, Macrocephaly, Age... |
ORPHA:93924 |
Lacrimoauriculodentodigital Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... |
ORPHA:2363 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus |
ORPHA:2050 |
Laurin-Sandrow Syndrome |
|
Hydrocephalus |
ORPHA:2378 |
Craniopharyngioma |
|
Abnormal hypothalamus morphology, Hydrocephalus |
ORPHA:54595 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Colpocephaly, Enlarged cerebellum |
ORPHA:477993 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus |
OMIM:104350 |
Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Spina bifida, Macrocephaly |
OMIM:109400 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Inability to walk, Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or viol... |
ORPHA:1675 |
Dextrocardia |
|
Hydrocephalus |
ORPHA:1666 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Cerebellar atrophy, Pontocerebellar atrophy |
OMIM:606002 |
Kabuki Syndrome |
|
Hydrocephalus, Cerebral cortical atrophy, Ventriculomegaly, Microcephaly |
ORPHA:2322 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Myelopathy, Abnormal cerebellum morp... |
ORPHA:909 |
Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
Mucopolysaccharidosis Type 3 |
|
Central nervous system degeneration, Hydrocephalus, Ventriculomegaly, Macrocephaly |
ORPHA:581 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus |
OMIM:244400 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Cerebral atrophy, Abnormal dentate nucleus morphology |
OMIM:213700 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Cerebellar hypoplasia, Macrocephaly, Cerebral cortical atrophy, Vent... |
ORPHA:457359 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Cerebellar atrophy |
OMIM:610131 |
Osteootohepatoenteric Syndrome |
|
Hydrocephalus |
OMIM:619377 |
Tick-Borne Encephalitis |
|
Speech apraxia, Incoordination, Paralysis, Tremor, Hyperkinetic movements, Tongue fasciculations |
ORPHA:297 |
Menkes Disease |
|
Hypopigmentation of hair, Bowing of the long bones, Tarsal synostosis, Chorea, Spasticity, Hypert... |
ORPHA:565 |
Coccidioidomycosis |
|
Broad skull, Hydrocephalus, CSF pleocytosis, CSF lymphocytic pleiocytosis, Hypoglycorrhachia, Inc... |
ORPHA:228123 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Ataxia, Paralysis, Hypertonia, Myoclonus, Tetraparesis, Failure to thrive |
OMIM:203700 |
Norrie Disease |
|
Clonus, Cachexia, Cryptorchidism, Hypotelorism, Deeply set eye, Hypertonia, Erectile dysfunction,... |
ORPHA:649 |
1P21.3 Microdeletion Syndrome |
|
Deeply set eye, Obesity |
ORPHA:293948 |
Meckel Syndrome |
|
Encephalocele, Microcephaly, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker ma... |
ORPHA:564 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Cerebellar atrophy |
OMIM:620133 |
Chédiak-Higashi Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Ataxia, Parkinsonism, Tremor, Larg... |
ORPHA:167 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:610217 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Mohr Syndrome |
|
Hydrocephalus |
OMIM:252100 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hydrocephalus, Agenesis of corpus callosum, Macrocephaly |
ORPHA:2658 |
Raine Syndrome |
|
Hydrocephalus, Microcephaly |
OMIM:259775 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Cerebellar atrophy, Atrophy of the spinal cord, Brain atrophy, Microcephaly |
ORPHA:466768 |
Mucopolysaccharidosis, Type Vi |
|
Cervical myelopathy, Hydrocephalus, Macrocephaly |
OMIM:253200 |
Brittle Cornea Syndrome |
|
Hallux valgus, Arachnodactyly, Abnormality of hair pigmentation, Camptodactyly |
ORPHA:90354 |
Menke-Hennekam Syndrome 1 |
|
Broad hallux, Overlapping toe, Sandal gap, Cryptorchidism, Deeply set eye, Cutaneous syndactyly o... |
OMIM:618332 |
Van Esch-O'Driscoll Syndrome |
|
Cerebellar atrophy, Spina bifida occulta, Cerebral atrophy, Microcephaly |
OMIM:301030 |
Fanconi Anemia, Complementation Group L |
|
Hydrocephalus, Cerebellar hypoplasia |
OMIM:614083 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hydrocephalus |
OMIM:245600 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hydrocephalus, Brain atrophy |
ORPHA:505248 |
Dubowitz Syndrome |
|
Hydrocephalus, Spina bifida occulta, Microcephaly |
ORPHA:235 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hydrocephalus |
OMIM:101800 |
Costello Syndrome |
|
Hydrocephalus, Cerebral atrophy, Chiari type I malformation, Macrocephaly, Enlarged cerebellum, V... |
OMIM:218040 |
Cystinosis, Nephropathic |
|
Male infertility, Hypopigmentation of hair, Short stature, Failure to thrive in infancy, Retinal ... |
OMIM:219800 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Cerebellar atrophy |
OMIM:618249 |
Rift Valley Fever |
|
Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis |
ORPHA:319251 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618188 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cerebellar atrophy |
OMIM:619259 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Cerebellar atrophy, Secondary microcephaly, Progressive microcephaly |
OMIM:616263 |
Cryptococcosis |
|
Hydrocephalus, Cerebral cortical atrophy |
ORPHA:1546 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... |
ORPHA:85450 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunct... |
ORPHA:90797 |
Isolated Congenital Alacrima |
|
Distichiasis, Alacrima |
ORPHA:91416 |
H Syndrome |
|
Hydrocephalus |
ORPHA:168569 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy |
OMIM:137440 |
Distal Renal Tubular Acidosis |
|
Growth delay, Failure to thrive, Short stature, Paralysis |
ORPHA:18 |
Wilson Disease |
|
Decreased nerve conduction velocity, Hypoesthesia, Face of the giant panda sign, Dementia, Dysphagia |
OMIM:277900 |
Viss Syndrome |
|
Long toe, Sparse scalp hair, Alopecia, Arachnodactyly, Rocker bottom foot, Short stature, Hyperte... |
OMIM:619472 |
Hurler Syndrome |
|
Hydrocephalus |
ORPHA:93473 |
Hajdu-Cheney Syndrome |
|
Hydrocephalus, Chiari malformation, Macrocephaly |
ORPHA:955 |
Sarcoidosis, Susceptibility To, 1 |
|
Clubbing, Epiphora, Weight loss |
OMIM:181000 |
Mowat-Wilson Syndrome |
|
Short stature, Supernumerary nipple, Hypertelorism, Cryptorchidism, Deeply set eye, Agenesis of c... |
OMIM:235730 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Deeply set eye, Ventriculomegaly, Hypertelorism |
OMIM:265380 |
Mowat-Wilson Syndrome |
|
Calcaneovalgus deformity, Deeply set eye, Agenesis of corpus callosum, Long toe, Syndactyly, Broa... |
ORPHA:2152 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Dilated fourth ventricle, Ventriculomegaly, Cerebellar vermis hypoplasia, Hypoplasia of the brain... |
ORPHA:480880 |
Knobloch Syndrome |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:1571 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Cerebellar atrophy, Global brain atrophy |
ORPHA:369837 |
Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy |
OMIM:277460 |
Persistent Hyperplastic Primary Vitreous |
|
Epiphora |
ORPHA:91495 |
46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Sparse axillary hair, Decreased f... |
ORPHA:251510 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Alacrima |
OMIM:618548 |
Marfan Syndrome |
|
Arachnodactyly, Equinus calcaneus, Metatarsus adductus, Deeply set eye, Hammertoe, Camptodactyly |
OMIM:154700 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Alg9-Cdg |
|
Cerebellar atrophy, Cerebral atrophy, Progressive microcephaly |
ORPHA:79328 |
Biotinidase Deficiency |
|
Diffuse cerebral atrophy, Diffuse cerebellar atrophy |
OMIM:253260 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Noonan Syndrome 1 |
|
Male infertility, Short stature, Failure to thrive in infancy, Hypertelorism, Postnatal growth re... |
OMIM:163950 |
Helix Syndrome |
|
Alacrima |
OMIM:617671 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hydrocephalus |
ORPHA:536467 |
Aicardi-Goutieres Syndrome 7 |
|
Cerebellar atrophy, Microcephaly, Cerebral atrophy, Primary microcephaly |
OMIM:615846 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus |
ORPHA:91350 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hallux valgus, Male infertility, Streak ovary, Unilateral cryptorchidism, Short stature, Bilatera... |
ORPHA:1772 |
Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus |
ORPHA:137667 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Cerebellar vermis atrophy |
ORPHA:64753 |
Meningioma |
|
Abnormal cerebellum morphology, Hydrocephalus, Brain stem compression |
ORPHA:2495 |
Mend Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:300960 |
Osteogenesis Imperfecta |
|
Relative macrocephaly, Hydrocephalus, Noncommunicating hydrocephalus, Brain stem compression, Mac... |
ORPHA:666 |
Osteopetrosis, Autosomal Recessive 3 |
|
Periodic hypokalemic paresis, Short stature, Diaphyseal sclerosis |
OMIM:259730 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Cerebellar atrophy |
OMIM:604121 |
Campomelic Dysplasia |
|
Relative macrocephaly, Spina bifida, Hydrocephalus, Spinal dysraphism, Macrocephaly |
OMIM:114290 |
Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Short stature, Abnormality of hair texture, Hypertelorism, Abnormal eyelash morphology,... |
ORPHA:286 |
Yunis-Varon Syndrome |
|
Hydrocephalus, Cerebellar hypoplasia, Primary microcephaly, Neuronal loss in central nervous syst... |
ORPHA:3472 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hydrocephalus, Chiari malformation |
ORPHA:95699 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Microcephaly |
ORPHA:2556 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Spinocerebellar atrophy |
ORPHA:95433 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Cerebellar vermis hypoplasia, Microcephaly, Mild fetal ventriculomeg... |
OMIM:619841 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hydrocephalus, Macrocephaly |
ORPHA:667 |
Pseudoaminopterin Syndrome |
|
Hydrocephalus, Macrocephaly |
ORPHA:221120 |
X-Linked Complicated Corpus Callosum Dysgenesis |
|
Aganglionic megacolon, Cerebellar hypoplasia |
ORPHA:1497 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Cerebellar atrophy, Microcephaly |
OMIM:210730 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cerebellar atrophy |
ORPHA:254892 |
Fanconi Anemia |
|
Hydrocephalus, Spina bifida, Ventriculomegaly, Microcephaly |
ORPHA:84 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Cerebellar atrophy |
OMIM:612780 |
Spinocerebellar Ataxia Type 7 |
|
Cerebellar atrophy, Cerebral atrophy |
ORPHA:94147 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Cerebellar vermis atrophy |
ORPHA:163681 |
Argininemia |
|
Cerebellar atrophy |
OMIM:207800 |
Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta |
ORPHA:2369 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Cerebellar cortical atrophy |
ORPHA:247234 |
Focal Dermal Hypoplasia |
|
Microcephaly, Hydrocephalus, Myelomeningocele, Chiari malformation, Spina bifida occulta, Agenesi... |
OMIM:305600 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Cerebellar vermis atrophy, Microcephaly |
ORPHA:495818 |
Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly |
ORPHA:1934 |
22Q11.2 Deletion Syndrome |
|
Spina bifida, Microcephaly, Hydrocephalus, Meningocele, Occipital myelomeningocele |
ORPHA:567 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hydrocephalus |
OMIM:261740 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Cerebellar atrophy |
OMIM:254900 |
Wolf-Hirschhorn Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly |
OMIM:194190 |
Oeis Complex |
|
Hydrocephalus, Chiari malformation, Myelomeningocele |
OMIM:258040 |
Fontaine Progeroid Syndrome |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Microcephaly |
OMIM:612289 |
Split Cord Malformation |
|
Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Meningocele, Chiari... |
ORPHA:573278 |
Fibromuscular Dysplasia, Multifocal |
|
Deeply set eye |
OMIM:619329 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Gitelman Syndrome |
|
Failure to thrive, Delayed puberty, Paralysis |
ORPHA:358 |
Charcot-Marie-Tooth Disease Type 4C |
|
Cerebellar atrophy |
ORPHA:99949 |
Hajdu-Cheney Syndrome |
|
Hydrocephalus |
OMIM:102500 |
Loeys-Dietz Syndrome 1 |
|
Hydrocephalus, Chiari malformation |
OMIM:609192 |
Tyrosinemia, Type I |
|
Growth delay, Failure to thrive, Periodic paralysis |
OMIM:276700 |
Peters-Plus Syndrome |
|
Microcephaly, Hydrocephalus, Cerebral atrophy, Macrocephaly, Agenesis of corpus callosum, Ventric... |
OMIM:261540 |
Baller-Gerold Syndrome |
|
Hydrocephalus, Spina bifida occulta, Agenesis of corpus callosum, Chiari malformation |
OMIM:218600 |
Fraser Syndrome 1 |
|
Encephalocele, Hydrocephalus, Myelomeningocele, Microcephaly |
OMIM:219000 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Trichiasis, Increased tear production, Nail dystrophy, Anonychia, Hypopigmentation of the skin, H... |
ORPHA:95455 |
Lymphangioleiomyomatosis |
|
Hydrocephalus |
ORPHA:538 |
Fetal Akinesia Deformation Sequence 1 |
|
Hydrocephalus, Cerebellar hypoplasia |
OMIM:208150 |
Alström Syndrome |
|
Incoordination, Ataxia, Hypergonadotropic hypogonadism, Frontal balding, Short stature, Testicula... |
ORPHA:64 |
Peters Plus Syndrome |
|
Microcephaly, Hydrocephalus, Spina bifida occulta, Cerebral cortical atrophy, Ventriculomegaly |
ORPHA:709 |
Gaucher Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:355 |
Neurofibromatosis Type 1 |
|
Hydrocephalus, Macrocephaly |
ORPHA:636 |
Hydrolethalus Syndrome 1 |
|
Anencephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Severe hydrocephalus |
OMIM:236680 |
Microphthalmia With Limb Anomalies |
|
Hydrocephalus |
ORPHA:1106 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hair-pulling |
ORPHA:447997 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Broad hallux, Hypertelorism, Absent radius, Short thumb, Partial duplicat... |
OMIM:149730 |
Tetraamelia Syndrome 1 |
|
Hydrocephalus |
OMIM:273395 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebellar atrophy, Hydrocephalus |
OMIM:175780 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Cerebral atrophy |
OMIM:124000 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Macrocephaly |
ORPHA:580 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Hydrocephalus, Macrocephaly |
ORPHA:363700 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Macrocephaly |
OMIM:312870 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida, Microcephaly |
ORPHA:322 |
Loeys-Dietz Syndrome 2 |
|
Hydrocephalus, Chiari malformation |
OMIM:610168 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hydrocephalus |
ORPHA:3042 |
Heterotaxy, Visceral, 5, Autosomal |
|
Cerebellar atrophy, Cerebellar hypoplasia, Cerebral atrophy |
OMIM:270100 |
Pineoblastoma |
|
Paralysis |
ORPHA:251909 |
Genitopatellar Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Dysphagia |
OMIM:606170 |
Townes-Brocks Syndrome 1 |
|
Hydrocephalus, Holoprosencephaly, Microcephaly |
OMIM:107480 |
Otopalatodigital Syndrome, Type Ii |
|
Hydrocephalus, Stillbirth, Spina bifida |
OMIM:304120 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hair-pulling |
OMIM:620330 |
Cystic Fibrosis |
|
Male infertility, Clubbing of fingers, Failure to thrive |
OMIM:219700 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Hydrocephalus, Chiari malformation, Agenesis of corpus callosum |
OMIM:164210 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Cerebellar atrophy |
ORPHA:67036 |
Roberts-Sc Phocomelia Syndrome |
|
Hydrocephalus, Frontal encephalocele, Microcephaly |
OMIM:268300 |
Cancer-Associated Retinopathy |
|
Diffuse cerebellar atrophy |
ORPHA:71505 |