Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
L1 cell adhesion molecule
Synonyms:
L1,  CD171,  NCAM-L1,  L1-NCAM

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by L1cam mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to L1cam by orthology or direct annotation.

The table below shows human diseases predicted to be associated to L1cam by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Megalencephaly, Autosomal Dominant
Macrocephaly, Megalencephaly, Hydrocephalus OMIM:155350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Megalencephaly, Polymicrogyria, Macrocephaly, Hydrocephalus OMIM:615938
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cer... OMIM:618730
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Ventriculomegaly, Brain atrophy, Small cerebral cortex, Abnormal cerebral morphology, Abnormal ce... ORPHA:329228
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Diffuse white matter abnormalities, Ventriculomegaly, Megalencephaly, Diffuse swelling of cerebra... OMIM:613925
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Macrocephaly, Hemimegalencep... OMIM:615937
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus, Cerebellar agenesis OMIM:307010
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar atrophy, Simplified gyral pattern... OMIM:613402
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypoplasia, Cerebellar dysplasia,... OMIM:604213
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral cortical atrophy, Cerebellar atroph... OMIM:617862
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Polymicrogyria, Macrocephaly, Subcortical band heterotopia, Agen... OMIM:600348
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Cerebellar hypoplasia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Abnormal cerebell... ORPHA:2703
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Brain atrophy, Hydranencephaly, Macrocephaly, Hydrocephalus,... OMIM:617967
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Attention deficit hyperactivity disorder, Pachygyria, Abnormal caudate n... ORPHA:300573
B4Galt1-Cdg
Macrocephaly, Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Dandy-Walker Syndrome
Posterior fossa cyst at the fourth ventricle, Partial absence of cerebellar vermis, Dilated fourt... OMIM:220200
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Abnormal corpus callosum morphology, Cortical dysplasia, Macrocephaly, Microcep... OMIM:618709
Alexander Disease
Increased CSF protein, Progressive macrocephaly, Hydrocephalus OMIM:203450
Hydrocephalus, Autosomal Dominant
Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation OMIM:123155
Lissencephaly 1
Hypoplasia of the brainstem, Pachygyria, Ventriculomegaly, Abnormal cerebral white matter morphol... OMIM:607432
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Hypoplasia of the corpus callosum, Cerebral atrophy, Polymicrogyria, Cerebellar atrophy, Microcep... OMIM:618973
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia OMIM:614173
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Ventriculomegaly, Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of corpus... ORPHA:171703
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Cerebral atrophy, Corpus callosum atrophy OMIM:615268
Fanconi Anemia, Complementation Group R
Microcephaly, Hydrocephalus OMIM:617244
Autosomal Recessive Spastic Paraplegia Type 32
Hypoplasia of the corpus callosum, Abnormal pons morphology, Cerebellar cortical atrophy ORPHA:171622
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Macrocephaly, Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Corpus Callosum, Partial Agenesis Of, X-Linked
Cerebellar hypoplasia, Inferior vermis hypoplasia, Microcephaly, Hydrocephalus, Partial agenesis ... OMIM:304100
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Macrocephaly, Cerebral cortical atrophy, Ventriculomegaly, Aplasia/Hypoplasia of the cerebellum ORPHA:1568
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Cerebral atrophy OMIM:616192
Lissencephaly 5
Hypoplasia of the brainstem, Porencephalic cyst, Type II lissencephaly, Hypoplasia of the corpus ... OMIM:615191
Atypical Teratoid Rhabdoid Tumor
Macrocephaly, Hydrocephalus, Cerebral calcification ORPHA:99966
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Cach Syndrome
Progressive neurologic deterioration, T2 hypointense thalamus, Truncal ataxia, Limb ataxia, Apath... ORPHA:135
Developmental And Epileptic Encephalopathy 76
Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar atrophy, Periventricular white ma... OMIM:618468
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Hypoplasia of the corpus callosum, Cerebellar atrophy, Cerebral atrophy, Microcephaly OMIM:611726
Microphthalmia-Brain Atrophy Syndrome
Inappropriate crying, Corpus callosum atrophy, Atrophy/Degeneration affecting the brainstem, Cere... ORPHA:77299
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Microcephaly, Cerebellar atrophy, Brain atrophy OMIM:618741
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Intellectual Developmental Disorder, Autosomal Recessive 69
Microcephaly, Ventriculomegaly, Cerebellar hypoplasia OMIM:618383
Xq27.3Q28 Duplication Syndrome
Deeply set eye, Intrauterine growth retardation, Truncal obesity, Failure to thrive, Short statur... ORPHA:261483
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebella... OMIM:617751
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Depression, Difficulty walking, Bradykinesia, Cerebral cortical hemiatrophy, Dilation o... ORPHA:306669
Lissencephaly 3
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cer... OMIM:611603
Spinocerebellar Ataxia, X-Linked 4
Morphological abnormality of the pyramidal tract, Tremor, Ataxia OMIM:301840
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypoplasia, Small cerebral cortex... OMIM:608716
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus OMIM:614830
Intellectual Developmental Disorder, Autosomal Recessive 68
Microcephaly, Cerebellar atrophy, Periventricular leukomalacia OMIM:618302
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Dystonia, ... ORPHA:79243
Congenital Disorder Of Glycosylation, Type Iw
Microcephaly, Cerebellar atrophy OMIM:615596
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Absent septum pellucidum, Aqueductal stenosis, Macrocephaly, Agenesis of corpus ca... OMIM:307000
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Macrocephaly, Microcephaly, Agenesis of corpus callosum OMIM:303350
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Lacrimation abnormality, Melanocytic nevus, Sparse scalp hair, Sparse and thin eyebrow, Alopecia,... ORPHA:1882
Familial Congenital Mirror Movements
Clumsiness, Agenesis of corpus callosum, Poor fine motor coordination, Morphological abnormality ... ORPHA:238722
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Peho-Like Syndrome
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Cerebellar atrop... OMIM:617507
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hypoplasia of the brainstem, Type II lissencephaly, Abnormal cerebral white matter morphology, Ce... ORPHA:352682
Spastic Paraplegia 32, Autosomal Recessive
Hypoplasia of the corpus callosum, Cerebellar atrophy, Cerebral atrophy OMIM:611252
Developmental And Epileptic Encephalopathy 36
Microcephaly, Cerebral atrophy, Hydrocephalus OMIM:300884
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Delayed social development, Hypoplasia of the brainstem, Abnormal cerebellar vermis morphology, D... ORPHA:300570
Combined Oxidative Phosphorylation Defect Type 39
Corpus callosum atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morpho... ORPHA:565624
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Agenesis of corpus callosum, Hydrocephalus, Aplasia/Hypoplasia of... OMIM:300864
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Depression, Chorea, Ventriculomegaly, Abnormal cerebral white ma... ORPHA:248111
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Cerebellar malformation, Type II lissencephaly, Ventriculomegaly, Macrocephaly at birth, Hydrocep... ORPHA:324416
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Increased CSF lactate, Ventriculomegaly, Hypoplasia of the corpus ca... ORPHA:255182
Alg13-Cdg
Cognitive impairment, Poor eye contact, Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dilation of lateral ventricles, Optic nerve hypoplasia, Spina bifida occulta, Microcephaly, Agene... OMIM:618736
Horner Syndrome, Congenital
Deeply set eye, Heterochromia iridis, Paralysis OMIM:143000
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Focal T2 hyperintense basal ganglia lesion, Overweight, Frontal cortical atrop... ORPHA:2822
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Ataxia, Dilated fourth ventricle, Torticollis, Cerebellar vermis atrophy, Small for gestational a... OMIM:619054
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Hypoplasia of ... OMIM:613154
Leukoencephalopathy, Progressive, With Ovarian Failure
Neurodegeneration, Progressive leukoencephalopathy, Periventricular leukomalacia, Cerebellar atro... OMIM:615889
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:608631
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the brainstem, Agenesis of corpus callosum, Ventriculomegaly, Cerebellar hypoplasia... OMIM:225790
Nescav Syndrome
Microcephaly, Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy OMIM:614255
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Morphological abnormality of the pyramidal tract, ... OMIM:260540
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Morphological abnormality o... OMIM:612067
Pontocerebellar Hypoplasia, Type 13
Inability to walk, Gait ataxia, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, Cereb... OMIM:618606
Pontocerebellar Hypoplasia, Type 6
Increased CSF lactate, Cerebral atrophy, Microcephaly, Cerebellar hypoplasia, Cerebellar atrophy,... OMIM:611523
Frontal Encephalocele
Spina bifida, Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Macrocephaly, Hy... ORPHA:1931
Spastic Paralysis, Infantile-Onset Ascending
Spastic paraplegia, Abnormal lower motor neuron morphology, Morphological abnormality of the cort... OMIM:607225
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614120
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Ventriculomegaly, Cerebellar atrophy OMIM:619323
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, Cerebellar atrophy, Cerebral ca... OMIM:610333
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
Mental Retardation, Autosomal Recessive 66
Gait ataxia, Shyness, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:618221
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Microcephaly, Ventriculomegaly, Cerebral atrophy, Impaired social interactions OMIM:617051
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent lipopigment OMIM:600143
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Cerebellar hypoplasia, Septo-optic dysplasia, Microcephaly, Agene... ORPHA:1528
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Cerebellar cyst, Ventriculomegaly... OMIM:613153
Leukodystrophy, Hypomyelinating, 14
Microcephaly, Cerebellar atrophy, Cerebral atrophy OMIM:617899
Adult Krabbe Disease
Hemiplegia, Hoffmann sign, Clumsiness, Erectile dysfunction, Tetraparesis, Ataxia, Morphological ... ORPHA:206448
Spinocerebellar Ataxia 10
Dysdiadochokinesis, Gait ataxia, Incoordination, Abnormality of extrapyramidal motor function, Li... OMIM:603516
Developmental And Epileptic Encephalopathy 65
Microcephaly, Ventriculomegaly, Cerebral atrophy, Cerebellar atrophy OMIM:618008
Combined Oxidative Phosphorylation Deficiency 14
Ventriculomegaly, Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brains... OMIM:614946
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Small cerebral cortex, Abnormal cortical gyration, Macrocephaly,... ORPHA:2185
Pontocerebellar Hypoplasia, Type 2D
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Cerebral atr... OMIM:613811
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Cerebellar cyst, Ventriculomegaly, Abnormal cerebral white matter morphology, Cerebel... ORPHA:370980
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Impaired social interactions, Temporal cortical atrophy, Frontal cortical atrophy, Partial absenc... ORPHA:137831
Dystonia 9
Spastic paraplegia, Episodic ataxia, Abnormal pyramidal sign, Morphological abnormality of the py... OMIM:601042
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Microcephaly, Cerebellar atrophy, Cortical dysplasia OMIM:608278
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Iron accumulation in substantia nigra, Hypoplasia of the corpus callosum, Cerebellar atrophy ORPHA:496756
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Inappropriate crying, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebral w... ORPHA:284417
Developmental And Epileptic Encephalopathy 5
Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly, Cerebellar atrophy, Atrophy/De... OMIM:613477
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Dilation of lateral ventricles, Thick cerebral cortex ORPHA:101071
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Cerebellar vermis atrophy,... OMIM:615760
Bilateral Frontoparietal Polymicrogyria
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar vermis hypoplasia, Cerebellar dysplasia... ORPHA:101070
Central Neurocytoma
Lethargy, Paresthesia, Depression, Pain insensitivity, Ataxia, Cerebral calcification, Abnormal l... ORPHA:73256
Spinocerebellar Ataxia 13
Gait ataxia, Limb dysmetria, Limb ataxia, Abnormal pyramidal sign, Progressive cerebellar ataxia,... OMIM:605259
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Cerebral calcification, Microcephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Gordon Holmes Syndrome
Cerebellar atrophy, Cerebral atrophy OMIM:212840
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Agenesis of corpus callosum, Fusion of the left and right thalami, Abnormality of the anterior co... OMIM:617542
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Dystonia, Chorea, Hypoplasia of the corpus callosum, Abnorm... ORPHA:178469
Wars2-Related Combined Oxidative Phosphorylation Defect
Hypoplasia of the brainstem, Abnormal periventricular white matter morphology, Aggressive behavio... ORPHA:572798
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Cerebellar atrophy, Dysplastic corpus callosum OMIM:618276
Leukodystrophy, Hypomyelinating, 11
Hypoplasia of the corpus callosum, Cerebellar atrophy OMIM:616494
Cubitus Valgus With Mental Retardation And Unusual Facies
Melanocytic nevus, Truncal obesity, Deeply set eye OMIM:300471
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Microcephaly, Ventriculomegaly, Cerebral atrophy, Cerebellar atrophy OMIM:617804
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Inability to walk, Deeply set eye, Gait ataxia OMIM:617915
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent lipopigment OMIM:610003
Spinocerebellar Ataxia 8
Tremor, Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Morphological abn... OMIM:608768
Malan Overgrowth Syndrome
Hypoplasia of the brainstem, Episodic ataxia, Hypoplasia of the corpus callosum, Ventriculomegaly... ORPHA:420179
Mental Retardation, Autosomal Recessive 45
Deeply set eye, Thick eyebrow OMIM:615979
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Slender build, Deeply set eye, Myoclonus, Short stature OMIM:300699
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thick hair, Deeply set eye, Synophrys, Thick eyebrow, Truncal obesity, Low posterior hairline, Sp... ORPHA:2429
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Ataxia, Dilated fourth ventricle, Inferior vermis hypoplas... ORPHA:370022
Congenital Neuronal Ceroid Lipofuscinosis
Pachygyria, Ventriculomegaly, Neuronal loss in the cerebral cortex, Cerebellar hypoplasia, Cerebe... ORPHA:168486
Amyotrophic Lateral Sclerosis 8
Fasciculations, Postural tremor, Amyotrophic lateral sclerosis, Morphological abnormality of the ... OMIM:608627
Spinocerebellar Ataxia 1
Impaired proprioception, Dysdiadochokinesis, Decreased amplitude of sensory action potentials, Pa... OMIM:164400
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait ataxia, Hypoplasia of the corpus callosum, Gait imbalance, Cerebellar hypoplasia, Cerebellar... ORPHA:488635
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Gait ataxia, Ataxia, Retrocerebellar cyst, Dilated fourth ... OMIM:614831
Severe X-Linked Intellectual Disability, Gustavson Type
Cerebellar hypoplasia, Dilated fourth ventricle, Small for gestational age, Microcephaly, Optic a... ORPHA:3078
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Rhombencephalosynapsis, Abnormal midbrain morphology, Megal... ORPHA:280195
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Disinhibition, Neurofibrillary tangles, Hypersexuality, Apathy, Frontotemporal dementia, Lewy bod... OMIM:607485
Mental Retardation, Autosomal Recessive 39
Stereotypy, Deeply set eye, Short stature, Synophrys OMIM:615541
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Gait ataxia, Ataxia, Dilated fourth ventricle, Cerebellar atrophy, Progressive psychomotor deteri... ORPHA:1170
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy ORPHA:458798
Spinocerebellar Ataxia Type 2
Dystonia, Gait ataxia, Cerebral white matter atrophy, Dementia, Cerebellar Purkinje layer atrophy... ORPHA:98756
Fried Syndrome
Abnormal cerebellum morphology, Hydrocephalus, Cerebral calcification ORPHA:85335
Spinocerebellar Ataxia Type 5
Cerebellar atrophy ORPHA:98766
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Hydrocephalus, Cerebellar hypoplasia, Simplified gyral pattern, Agen... OMIM:619302
Gerstmann-Straussler-Scheinker Syndrome
Gait ataxia, Paresthesia, Dysesthesia, Acroparesthesia, Morphological abnormality of the pyramida... ORPHA:356
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Deeply set eye, Short stature, Obesity OMIM:619058
Slc35A2-Cdg
Inability to walk, Cerebral white matter atrophy, Abnormal midbrain morphology, Hypoplasia of the... ORPHA:356961
Huntington Disease-Like 3
Abnormality of extrapyramidal motor function, Chorea, Abnormal pyramidal sign, Ataxia, Morphologi... OMIM:604802
Spastic Paraplegia 50, Autosomal Recessive
Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, Cerebellar atrophy OMIM:612936
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired pain sensation, Decreased motor nerve conduction velocity, Impaired vibratory sensation,... DECIPHER:29
Methylmalonic Acidemia With Homocystinuria
Microcephaly, Hydrocephalus ORPHA:26
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Cerebral atrophy, Secondary microcephaly, Hydrocephalus ORPHA:397951
Mental Retardation Syndrome, Belgian Type
Hypergonadotropic hypogonadism, Deeply set eye, Eunuchoid habitus OMIM:249599
Spinocerebellar Ataxia 11
Cerebellar atrophy OMIM:604432
Arnold-Chiari Malformation Type Ii
Neurogenic bladder, Agenesis of corpus callosum, Brain stem compression, Difficulty walking, Vent... ORPHA:1136
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, Agenesis of corp... ORPHA:2182
Giant Axonal Neuropathy 1, Autosomal Recessive
Spastic paraplegia, Curly hair, Abnormal pyramidal sign, Morphological abnormality of the pyramid... OMIM:256850
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Autosomal Recessive Spastic Paraplegia Type 66
Difficulty walking, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Spastic gait, Impai... ORPHA:401815
Spinocerebellar Ataxia 41
Cerebellar atrophy OMIM:616410
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Dystonia, Hypoplasia of the corpus callosum, Hypoplastic hipp... ORPHA:208447
Waardenburg Syndrome Type 1
Hypopigmentation of hair, Spina bifida, White eyebrow, Premature graying of hair, Abnormal hair m... ORPHA:894
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Posterior fossa cyst at the fourth ventricle, Partial absence of cerebellar vermis, Dilated fourt... OMIM:220219
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Spastic paraparesis, Poor coordination, Abnormal pyramidal sign, Morphological abnormality of the... OMIM:238970
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Microcephaly, Cerebellar atrophy, Cerebral atrophy OMIM:619090
Autosomal Recessive Spastic Paraplegia Type 74
Hypoplasia of the corpus callosum, Cerebellar atrophy, Cerebral white matter atrophy ORPHA:468661
Forsythe-Wakeling Syndrome
Deeply set eye, Short stature, Decreased body weight, Growth delay OMIM:613606
Pontocerebellar Hypoplasia, Type 2B
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atroph... OMIM:612389
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar dysplasia, Polymicrogyr... OMIM:615181
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Hydr... ORPHA:1532
Aminoacylase 1 Deficiency
Cerebellar atrophy, Cerebral atrophy OMIM:609924
Hsd10 Disease
Abnormal social behavior, Ventriculomegaly, Gait disturbance, Ataxia, Frontotemporal cerebral atr... ORPHA:391417
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Aggressive behavior, Difficulty walking, Hypoplasia of the corpus callosum, Ventriculomegaly, Mul... ORPHA:488627
Spinocerebellar Ataxia, Autosomal Recessive 12
Microcephaly, Cerebellar atrophy OMIM:614322
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Depression, Difficulty walking, Abnormal social behavior, ... ORPHA:255
Joubert Syndrome 30
Ventriculomegaly, Cerebellar atrophy, Molar tooth sign on MRI, Dandy-Walker malformation, Superio... OMIM:617622
Spinocerebellar Ataxia 30
Cerebellar atrophy OMIM:613371
3-Methylglutaconic Aciduria, Type Vii
Microcephaly, Cerebellar atrophy, Cerebral atrophy OMIM:616271
Joubert Syndrome 31
Truncal ataxia, Hypoplasia of the corpus callosum, Ventriculomegaly, Cognitive impairment, Molar ... OMIM:617761
Pettigrew Syndrome
Gait ataxia, Ventriculomegaly, Deeply set eye, Choreoathetosis, Hydrocephalus, Dandy-Walker malfo... OMIM:304340
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Microcephaly, Cerebral atrophy, Cerebellar vermis atrophy, Dandy-Walker malformation OMIM:616154
Ceroid Lipofuscinosis, Neuronal, 10
Cerebral atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Microcephal... OMIM:610127
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy OMIM:605388
Fatty Acyl-Coa Reductase 1 Deficiency
Cerebellar atrophy, Progressive microcephaly, Dandy-Walker malformation ORPHA:438178
Dihydropyrimidinase Deficiency
Extrapyramidal dyskinesia, Growth delay, Abnormal pyramidal sign, Morphological abnormality of th... OMIM:222748
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Abnormal cerebellum morphology OMIM:615362
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Cogwheel rigidity, Gait ataxia, Chorea, Hypertonia, Abnormal pyramidal sign, Tetraparesis, Parapa... OMIM:607483
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Dilated third ventricle, Diffuse cerebral atrophy, Scissor gait, Dilation of latera... ORPHA:363654
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy ORPHA:211017
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Corticospinal tract atrophy, Ataxia OMIM:551500
Lissencephaly 6 With Microcephaly
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Cerebellar atrop... OMIM:616212
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Ventriculomegaly, Cerebral atrophy, Cerebellar atrophy OMIM:601170
Congenital Disorder Of Glycosylation, Type Iii
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Cerebral atrophy, Microcephaly OMIM:613612
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Cerebellar vermis atrophy, Brain atrophy ORPHA:363432
Hemifacial Atrophy, Progressive
Deeply set eye, Poliosis, Patchy alopecia, Ataxia OMIM:141300
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Cerebellar hypoplasia, Hypoplasia of the pons OMIM:619303
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
Orofaciodigital Syndrome Xv
Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration OMIM:610951
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Dilation of lateral ventricles, Optic nerve hypo... OMIM:618890
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:616816
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy OMIM:619333
Spastic Paraplegia 6, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Spastic paraplegia, Tremor, Lower limb spastici... OMIM:600363
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy OMIM:617643
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Spinocerebellar Ataxia 45
Cerebellar atrophy OMIM:617769
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microcephaly, Cerebellar atrophy, Cerebral atrophy, Simplified gyral pattern OMIM:616171
Intellectual Developmental Disorder, X-Linked 108
Deeply set eye, High anterior hairline OMIM:301024
Autosomal Dominant Spastic Paraplegia Type 19
Degeneration of the lateral corticospinal tracts, Limb ataxia, Female sexual dysfunction, Spastic... ORPHA:100999
L-2-Hydroxyglutaric Aciduria
Spastic tetraparesis, Abnormal pyramidal sign, Morphological abnormality of the pyramidal tract, ... OMIM:236792
Dandy-Walker Malformation With Postaxial Polydactyly
Posterior fossa cyst at the fourth ventricle, Partial absence of cerebellar vermis, Dilated fourt... OMIM:220220
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse hair, Lacrimation abnormality, Hypopigmented skin patches, Sparse l... ORPHA:1807
Warburg Micro Syndrome 1
Deeply set eye, Spastic diplegia, Facial hypertrichosis, Hypertrichosis, Short stature, Failure t... OMIM:600118
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Silent Sinus Syndrome
Deeply set eye ORPHA:71276
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Pontocerebellar Hypoplasia, Type 3
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar hypo... OMIM:608027
Spastic Paraplegia 2, X-Linked
Degeneration of the lateral corticospinal tracts, Spastic paraplegia, Spastic paraparesis, Lower ... OMIM:312920
Wilson-Turner Syndrome
Deeply set eye, Thick eyebrow, Truncal obesity, Short stature, Hypogonadotropic hypogonadism ORPHA:3459
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Absent septum pellucidum, Ventriculomegaly, Cerebellar vermis hypoplasia, Cerebel... ORPHA:397715
Gand Syndrome
Tics, Deeply set eye, Hypertelorism, Sparse hair OMIM:615074
Spastic Paraplegia 75, Autosomal Recessive
Ventriculomegaly, Corpus callosum atrophy, Cerebellar atrophy OMIM:616680
Spastic Paraplegia 8, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Spastic paraplegia, Upper limb spasticity, Lowe... OMIM:603563
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Dystonia, Memory impairment, Inertia, Chorea, Gait disturbance, Abnormal nerv... ORPHA:98755
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Akinetic mutism, ... ORPHA:2148
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Macrocephaly, Polymicrogyria, Megalencephaly, Hydrocephalus ORPHA:83473
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Microcephaly, Ventriculomegaly, Cerebellar atrophy OMIM:618367
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy OMIM:617133
Distal Monosomy 10Q
Cavum septum pellucidum, Aggressive behavior, Cerebellar hypoplasia, Ataxia, Unsteady gait, Infer... ORPHA:96148
Xeroderma Pigmentosum, Complementation Group F
Tremor, Deeply set eye, Ataxia, Decreased body weight, Short stature, Numerous pigmented freckles OMIM:278760
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Pseudobulbar paralysis, Degeneration of anterio... OMIM:105400
Chromosome Xq27.3-Q28 Duplication Syndrome
Deeply set eye, Intrauterine growth retardation, Small for gestational age, Short stature, Abdomi... OMIM:300869
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Short stature, Deeply set eye, Sparse hair, Alopecia OMIM:617763
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tremor, Babinski sign, Morphological abnormality of the pyramidal tract ORPHA:83629
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Abnormal hair whorl, Spotty hypopigmentation, Deeply set eye, Hirsutism, Synophrys, Nail dysplasi... OMIM:300860
Keratosis Pilaris Atrophicans
Sparse eyebrow, Absent eyelashes, Epiphora OMIM:604093
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia OMIM:616531
Dystonia 23
Cerebral cortical atrophy, Cerebellar atrophy OMIM:614860
Machado-Joseph Disease Type 3
Neurogenic bladder, Dystonia, Spinocerebellar tract degeneration, Progressive gait ataxia, Abnorm... ORPHA:276244
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity, Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus callosum OMIM:617296
Chromosome 20Q11-Q12 Deletion Syndrome
Intrauterine growth retardation, Deeply set eye, Hypertelorism OMIM:614257
Progressive Hemifacial Atrophy
Deeply set eye, Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Deeply set eye, High anterior hairline, Recurrent hand flapping, Spasticity OMIM:618859
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Cerebellar vermis hypoplasia, Ataxia, Elongated superior ... OMIM:609583
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Sparse facial hair, Deeply set eye, Sparse axillary hair, Small for gestational ag... OMIM:608154
Spinocerebellar Ataxia 38
Cerebellar atrophy OMIM:615957
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Lethal Congenital Contracture Syndrome 7
Hypoplasia of the corpus callosum, Cerebellar atrophy, Cerebral atrophy, Small basal ganglia OMIM:616286
20Q11.2 Microdeletion Syndrome
Intrauterine growth retardation, Deeply set eye, Hypertelorism ORPHA:444051
Granddad Syndrome
Intrauterine growth retardation, Deeply set eye, Abnormal hair morphology OMIM:138920
1p36 microdeletion syndrome
Deeply set eye DECIPHER:18
Spinocerebellar Ataxia Type 31
Cerebellar atrophy ORPHA:217012
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Decreased body weight, Highly arched eyebrow, Deeply set eye, Short stature OMIM:618342
Kleeblattschaedel
Hydrocephalus OMIM:148800
Machado-Joseph Disease
Dystonia, Truncal ataxia, Impaired vibratory sensation, Spinocerebellar tract degeneration, Demen... OMIM:109150
Spinocerebellar Ataxia 23
Cerebellar atrophy, Agenesis of corpus callosum, Neuronal loss in central nervous system OMIM:610245
Leukodystrophy, Hypomyelinating, 18
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Secondary microcephaly, Abnorma... OMIM:618404
Spinocerebellar Ataxia Type 38
Cerebellar atrophy ORPHA:423296
14Q11.2 Microdeletion Syndrome
Highly arched eyebrow, Hypertelorism, Melanocytic nevus, Deeply set eye, Sparse lateral eyebrow ORPHA:261120
Chondroectodermal Dysplasia With Night Blindness
Abnormal hair morphology, Epiphora, Onychauxis, Hyperconvex fingernails, Short stature, Congenita... ORPHA:319195
Spinocerebellar Ataxia 31
Cerebellar atrophy OMIM:117210
Ataxia-Telangiectasia-Like Disorder
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Cerebellar vermis hypoplasia, Ataxia, Dilated ... ORPHA:251347
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoplasia of the brainstem, Diffuse white matter abnormalities, Agenesis of corpus callosum, Typ... ORPHA:370959
Cog5-Cdg
Neurogenic bladder, Truncal ataxia, Cerebral white matter atrophy, Cerebellar atrophy, Atrophy/De... ORPHA:263487
Leukodystrophy, Hypomyelinating, 17
Hypoplasia of the corpus callosum, Cerebellar atrophy, Cerebral atrophy, Microcephaly OMIM:618006
Spinocerebellar Ataxia 37
Cerebellar atrophy OMIM:615945
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Deeply set eye, Unsteady gait, Gait ataxia OMIM:618158
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Microcephaly, Cerebellar atrophy OMIM:617086
2q37 monosomy
Deeply set eye DECIPHER:44
Christianson Syndrome
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly... ORPHA:85278
Choreoacanthocytosis
Hair-pulling, Weight loss, Emotional lability, Head-banging, Cerebral cortical atrophy, Progressi... ORPHA:2388
Acalvaria
Holoprosencephaly, Spina bifida, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus ORPHA:945
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Pachygyria, Cerebellar cyst, Ventriculomegaly, Abnormal cerebral white matter morphology, Cerebel... OMIM:606612
Developmental And Epileptic Encephalopathy 37
Cerebellar atrophy, Cerebral atrophy OMIM:616981
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Hypoplasia of the brainstem, Pachygyria, Cerebellar hypoplasia, Cerebellar atrophy, Simplified gy... OMIM:224050
Autosomal Dominant Spastic Paraplegia Type 73
Degeneration of the lateral corticospinal tracts, Lower limb spasticity, Spastic gait, Babinski s... ORPHA:444099
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Horizontal eyebrow, Deeply set eye, Long eyelashes, Synophrys, Thick eyebrow, Hypertrichosis OMIM:618381
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Neurodegeneration With Brain Iron Accumulation 7
Hypoplasia of the corpus callosum, Cerebellar atrophy, Cerebral atrophy OMIM:617916
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Tremor, Premature graying of hair, Hypertonia, Ataxia, Generalized hype... ORPHA:33445
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Impaired vibratory sensation, Spinocerebellar tract degeneration, Dementia, L... OMIM:183090
Masa Syndrome
Ventriculomegaly, Agenesis of corpus callosum ORPHA:2466
Dystonia With Cerebellar Atrophy
Cerebellar atrophy OMIM:611694
Autosomal Dominant Spastic Paraplegia Type 42
Degeneration of the lateral corticospinal tracts, Lower limb hypertonia, Lower limb spasticity, S... ORPHA:171863
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hypoplasia of the brainstem, Agenesis of corpus callosum, Type II lissencephaly, Ventriculomegaly... OMIM:615287
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Attention deficit hyperactivity disorder, Aggressive behavior, Self-injurious behavior, Dysplasti... ORPHA:544488
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Atrophy of the dentate nucleus, Aplasia of the inferior half of the cerebellar vermis, Global bra... OMIM:610185
Coach Syndrome 2
Molar tooth sign on MRI, Agenesis of corpus callosum, Hydrocephalus, Cerebellar vermis hypoplasia OMIM:619111
Neurodegeneration With Brain Iron Accumulation 2A
Morphological abnormality of the pyramidal tract, Unsteady gait, Gliosis, Ataxia OMIM:256600
Autosomal Dominant Spastic Paraplegia Type 8
Degeneration of the lateral corticospinal tracts, Limb dysmetria, Upper limb spasticity, Limb ata... ORPHA:100989
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia, Ataxia OMIM:616781
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Progressive macrocephaly, Ventriculomegaly, Megalencephaly, Polymicrogyr... OMIM:602501
Machado-Joseph Disease Type 1
Neurogenic bladder, Dystonia, Spinocerebellar tract degeneration, Progressive gait ataxia, Progre... ORPHA:276238
Machado-Joseph Disease Type 2
Neurogenic bladder, Dystonia, Spinocerebellar tract degeneration, Progressive gait ataxia, Progre... ORPHA:276241
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Hypertelorism, Sparse hair, Deeply set eye, Failure to thrive, Aplasia/Hypoplasia of the eyebrow,... ORPHA:261304
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Abnormal periventricular white matter morphology, Hydrocephalus, Ventriculomegaly, Abnormal cereb... OMIM:618476
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Silver-gray hair, Accumulation of melanosomes in mela... OMIM:607624
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Melanocytic nevus, Truncal obesity, Deeply set eye, Short stature ORPHA:85280
Craniosynostosis 6
Abnormal corpus callosum morphology, Cerebellar atrophy, Spina bifida occulta, Microcephaly, Agen... OMIM:616602
X-Linked Complicated Spastic Paraplegia Type 1
Cognitive impairment, Mental deterioration, Ataxia ORPHA:306617
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy OMIM:614706
Motor Neuron Disease With Dementia And Ophthalmoplegia
Astrocytosis, Degeneration of anterior horn cells, Corticospinal tract pallor OMIM:600333
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Hemiplegia, Tremor, Sparse hair, Abnormality of extrapyramidal motor function, Abnormal pyramidal... OMIM:612199
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Agenesis of cerebe... ORPHA:163961
Al-Gazali-Bakalinova Syndrome
Macrocephaly, Molar tooth sign on MRI, Agenesis of corpus callosum, Brain atrophy OMIM:607131
Alazami Syndrome
Decreased body weight, Deeply set eye, Severe short stature OMIM:615071
Frontotemporal Dementia With Motor Neuron Disease
Degeneration of the lateral corticospinal tracts, Apraxia, Abnormality of extrapyramidal motor fu... ORPHA:275872
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hypertelorism, Deeply set eye, Spasticity, Ataxia, Short stature, Obesity OMIM:618443
Spastic Paraplegia 3, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Spastic paraplegia, Lower limb spasticity, Spas... OMIM:182600
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Cerebral atrophy OMIM:618369
Cornelia De Lange Syndrome 5
Highly arched eyebrow, Low anterior hairline, Hypertelorism, Deeply set eye, Hirsutism, Long eyel... OMIM:300882
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Diffuse white matter abnormalities, Abnormal periventricular white matter morphology, Hypoplasia ... ORPHA:466934
Achondroplasia
Megalencephaly, Hydrocephalus, Brain stem compression OMIM:100800
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Hypertelorism, Lacrimation abnormality ORPHA:1135
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Tremor, Deeply set eye, Spastic diplegia, Long eyelashes, Synophrys, Postnatal growth retardation... ORPHA:480907
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Progressive Myoclonic Epilepsy With Dystonia
Microcephaly, Diffuse cerebral atrophy, Diffuse cerebellar atrophy ORPHA:352596
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Hypoplasia of the corpus callosum, Cerebellar atrophy, Cerebral atrophy, Microcephaly ORPHA:320385
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Disinhibition, Aggressive behavior, Hypoplasia of the corpus callosum, Gait disturbance, Cerebral... OMIM:221770
Corpus Callosum Agenesis-Neuronopathy Syndrome
Microcephaly, Agenesis of corpus callosum, Aqueductal stenosis ORPHA:1496
Pierpont Syndrome
Hypertelorism, Deeply set eye, High anterior hairline, Hypertonia, Decreased body weight, Short s... OMIM:602342
Glutaric Acidemia I
Dystonia, Failure to thrive, Choreoathetosis, Dilation of lateral ventricles OMIM:231670
Proximal 16P11.2 Microduplication Syndrome
Tremor, Decreased body mass index, Hypertelorism, Sparse eyebrow, Deeply set eye, Abnormality of ... ORPHA:370079
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Spastic paraplegia, Knee clonus, Ataxia, Ankle ... OMIM:604360
Joubert Syndrome 32
Ataxia, Polymicrogyria, Abnormal cerebellum morphology, Large for gestational age, Molar tooth si... OMIM:617757
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Hypertelorism, Sparse hair, Deeply set eye, Hirsutism, Oculomotor apraxia, Ataxia, Dysmetria, Spa... OMIM:618087
Joubert Syndrome 36
Macrocephaly, Molar tooth sign on MRI OMIM:618763
Cerebrooculofacioskeletal Syndrome 1
Deeply set eye, Hirsutism, Agenesis of corpus callosum, Failure to thrive OMIM:214150
Galloway-Mowat Syndrome 5
Deeply set eye, Ventriculomegaly, Hypertelorism, Ataxia OMIM:617731
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Shyness, Abnormal periventricular white matter morphology, Overweight, Difficulty walki... ORPHA:280763
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Hypoplasia of the corpus callosum, Cerebellar atrophy, Cerebral atrophy OMIM:300423
Glut1 Deficiency Syndrome 1
Hemiparesis, Paralysis, Ataxia, Myoclonus, Babinski sign, Choreoathetosis, Spasticity OMIM:606777
Classic Glucose Transporter Type 1 Deficiency Syndrome
Apraxia, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Myoclonus, Extrapyramidal dyskinesia... ORPHA:71277
Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation
Deeply set eye, Patchy alopecia, Short stature, Multiple cafe-au-lait spots, Spasticity ORPHA:85279
Hypermanganesemia With Dystonia 2
Secondary microcephaly, Cerebellar atrophy, Cerebral atrophy OMIM:617013
Cutis Laxa, Autosomal Recessive, Type Iib
Hypertelorism, Hydrocephalus, Deeply set eye, Failure to thrive, Intrauterine growth retardation,... OMIM:612940
X-Linked Intellectual Disability, Schimke Type
Deeply set eye, Failure to thrive in infancy, Short stature, Choreoathetosis, Spasticity ORPHA:85285
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Hypoplasia of the brainstem, Cerebellar atrophy OMIM:618324
Porphyria, Acute Hepatic
Failure to thrive, Paralysis, Respiratory paralysis OMIM:612740
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Depression, Abnormal cerebral white matter morphology, Frontotemporal ... ORPHA:100070
Mental Retardation, Autosomal Dominant 47
Thin eyebrow, Deeply set eye OMIM:617635
1Q21.1 Microduplication Syndrome
Macrocephaly, Hydrocephalus ORPHA:250994
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Progressive microcephaly, Hyperintensity of cerebral white matter on MRI, Cer... ORPHA:521406
Autosomal Dominant Spastic Paraplegia Type 37
Degeneration of the lateral corticospinal tracts, Lower limb spasticity, Spastic gait, Babinski s... ORPHA:171612
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Multifocal cerebral white matter abnormalities, Dilation of lateral ventricles OMIM:600721
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Short stature, Partial albinism ORPHA:90023
Cdkl5-Deficiency Disorder
Stereotypical hand wringing, Deeply set eye, Synophrys, Growth delay ORPHA:505652
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia OMIM:618876
Poretti-Boltshauser Syndrome
Abnormal periventricular white matter morphology, Cerebellar cyst, Cerebellar vermis hypoplasia, ... OMIM:615960
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Increased CSF lactate, Cerebellar atrophy, Focal T2 hypointense basal ganglia lesion ORPHA:139485
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebral cortical atrophy, Cerebellar atrophy, Hypoplasia of the corpus callosum, Progressive mic... OMIM:617802
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Agenesis of cerebellar vermis, Meningocele, Micro... OMIM:611134
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypertelorism, Azoospermia, Premature graying of hair, Hypergonadotropic hypogonadism, Deeply set... ORPHA:280679
Multiple Mitochondrial Dysfunctions Syndrome 6
Secondary microcephaly, Cerebellar atrophy, Leukoencephalopathy OMIM:617954
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hypoplasia of the brainstem, Agenesis of corpus callosum, Type II lissencephaly, Cerebellar hypop... OMIM:615249
Joubert Syndrome 10
Macrocephaly, Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:300804
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy ORPHA:101010
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Hypoplasia of the corpus callosum, Cerebellar atrophy OMIM:617207
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Colpocephaly, Dysplastic corpus callosum, Polymicrogyria, Optic nerv... ORPHA:250972
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy OMIM:617018
Chromosome 22Q11.2 Deletion Syndrome, Distal
Intrauterine growth retardation, Highly arched eyebrow, Deeply set eye, Short stature OMIM:611867
Polyglucosan Body Neuropathy, Adult Form
Neurogenic bladder, Paresthesia, Orthostatic hypotension, Gait disturbance, Abnormal cerebral whi... OMIM:263570
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy OMIM:141500
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Microcephaly, Cerebellar atrophy, Neurodegeneration ORPHA:438134
Mental Retardation, Autosomal Dominant 7
Incoordination, Deeply set eye, Ataxia, Failure to thrive in infancy, Intrauterine growth retarda... OMIM:614104
Greig Cephalopolysyndactyly Syndrome
Macrocephaly, Agenesis of corpus callosum, Hydrocephalus ORPHA:380
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Spastic Ataxia 3, Autosomal Recessive
Cerebral cortical atrophy, Cerebellar atrophy, Leukoencephalopathy OMIM:611390
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Delayed social development, Gait ataxia, Ataxia, Cerebellar atrophy, Cerebell... ORPHA:208513
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebellar cyst, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar vermis hypoplasi... OMIM:616538
L1 Syndrome
Depression, Gait disturbance, Aganglionic megacolon, Aqueductal stenosis, Hydrocephalus ORPHA:275543
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Hypertelorism, Deeply set eye, Absent pubertal growth spurt, Ataxia, Obesity, Lower limb spastici... ORPHA:464282
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida, Deeply set eye, Growth delay, Postnatal growth retardation, Low posterior ... OMIM:600122
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Narp Syndrome
Progressive gait ataxia, Retinal pigment epithelial mottling, Ataxia, Corticospinal tract atrophy... ORPHA:644
Pierpont Syndrome
Deeply set eye, High anterior hairline, Hypertelorism, Small for gestational age ORPHA:487825
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy OMIM:616187
Spinocerebellar Ataxia, Autosomal Recessive 22
Hypoplasia of the corpus callosum, Cerebellar atrophy OMIM:616948
Spastic Paraplegia 4, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Spastic paraplegia, Lower limb spasticity, Spas... OMIM:182601
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy OMIM:301020
Mucolipidosis Iv
Cerebral dysmyelination, Microcephaly, Cerebellar atrophy, Dysplastic corpus callosum OMIM:252650
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral white matter atrophy, Corpus callosum atrophy, Brain atrophy, Cerebral cortical atrophy,... ORPHA:369939
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Hypoplasia of the corpus callosum, Ataxia, Abnormal upper motor neuron morphology, Cere... OMIM:607694
Tremor-Ataxia-Central Hypomyelination Syndrome
Postural tremor, Clumsiness, Intention tremor, Deeply set eye, Ataxia, Delayed puberty, Dysmetria... ORPHA:447896
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Aggressive behavior, Hypoplasia of the corpus callosum, Self-injurious behavior, Impulsivity, Dil... OMIM:618914
Combined Oxidative Phosphorylation Deficiency 25
Cerebellar atrophy, Cerebral atrophy, Decreased response to growth hormone stimuation test OMIM:616430
Beta-Propeller Protein-Associated Neurodegeneration
Iron accumulation in substantia nigra, Cerebellar atrophy, Cerebral atrophy ORPHA:329284
Glutamine Deficiency, Congenital
Subependymal cysts, Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:610015
Spastic Ataxia 9, Autosomal Recessive
Cerebellar vermis atrophy OMIM:618438
Autosomal Dominant Spastic Paraplegia Type 12
Degeneration of the lateral corticospinal tracts, Limb ataxia, Female sexual dysfunction, Spastic... ORPHA:100993
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Deeply set eye, Thick eyebrow, Sparse eyebrow, Recurrent hand flapping OMIM:617268
Mitochondrial Complex I Deficiency, Nuclear Type 37
Corpus callosum atrophy, Increased CSF lactate, Ventriculomegaly, Cerebral atrophy, Cerebral cort... OMIM:619272
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Agenesis of corpus callosum, Dilation of lateral ventricles OMIM:300952
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Al-Raqad Syndrome
Inability to walk, Deeply set eye, Unsteady gait OMIM:616459
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Deeply set eye, Gait disturbance, Ataxia, Abnormality of pain sensation ORPHA:544254
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Borjeson-Forssman-Lehmann Syndrome
Obesity, Deeply set eye, Short stature, Delayed puberty OMIM:301900
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Cavum septum pellucidum, Aggressive behavior, Abnormal cerebral white matter morphology, Ataxia, ... ORPHA:457279
Craniofacial Dyssynostosis
Macrocephaly, Hypoplasia of the corpus callosum, Hydrocephalus ORPHA:1516
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Highly arched eyebrow, Tremor, Deeply set eye, Short stature ORPHA:457365
Congenital Disorder Of Glycosylation, Type Iih
Microcephaly, Ventriculomegaly, Cerebellar atrophy OMIM:611182
Neurodegeneration With Brain Iron Accumulation 4
Dystonia, Dementia, Depression, Gait disturbance, Lewy bodies, Ataxia, Emotional lability, Abnorm... OMIM:614298
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Hydrocephalus ORPHA:759
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair, Short stature ORPHA:1355
Meckel Syndrome 13
Molar tooth sign on MRI, Cerebellar hypoplasia, Ataxia OMIM:617562
Developmental And Epileptic Encephalopathy 44
Dystonia, Hypoplasia of the corpus callosum, Poor eye contact, Cerebral atrophy, Cerebellar atrop... OMIM:617132
Leukodystrophy, Hypomyelinating, 12
Hypoplasia of the corpus callosum, Ventriculomegaly, Secondary microcephaly, Cerebellar atrophy, ... OMIM:616683
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Small for gestational age, Dilation of lateral ventricles OMIM:619278
Epidermolysis Bullosa Simplex With Pyloric Atresia
Deeply set eye OMIM:612138
Spastic Paraplegia 35, Autosomal Recessive
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Neurodegener... OMIM:612319
8P23.1 Duplication Syndrome
Highly arched eyebrow, Deeply set eye, Hypertelorism ORPHA:251076
Coenzyme Q10 Deficiency, Primary, 5
Secondary microcephaly, Cerebellar atrophy, Cerebral atrophy OMIM:614654
Congenital Toxoplasmosis
Microcephaly, Ventriculomegaly, Hydrocephalus, Cerebral calcification ORPHA:858
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hypoplasia of the corpus callosum, Cerebellar atrophy OMIM:618090
Nasu-Hakola Disease
Cerebral cortical atrophy, Ventriculomegaly, Hydrocephalus, Cerebral calcification ORPHA:2770
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypertelorism, Azoospermia, Premature graying of hair, Hypergonadotropic hypogonadism, Deeply set... OMIM:300845
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Spastic paraparesis, Hand tremor, Deeply set eye, Frontal balding, Early balding, Truncal obesity... ORPHA:3041
Pallister-Hall-Like Syndrome
Macrocephaly, Hypothalamic hamartoma, Hydrocephalus, Anterior hypopituitarism OMIM:241800
15Q11.2 Microdeletion Syndrome
Memory impairment, Thick cerebral cortex, Self-injurious behavior, Ataxia, Dilated fourth ventric... ORPHA:261183
Waardenburg Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, Heteroch... ORPHA:3440
Cog8-Cdg
Atrophy/Degeneration affecting the brainstem, Ventriculomegaly, Progressive microcephaly, Cerebel... ORPHA:95428
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Kaya-Barakat-Masson Syndrome
Hypoplasia of the corpus callosum, Cerebellar atrophy, Cerebral atrophy, Microcephaly OMIM:619125
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy ORPHA:98769
Foxg1 Syndrome
Inability to walk, Impaired social interactions, Dystonia, Choreoathetosis, Pachygyria, Inappropr... ORPHA:561854
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Arnold-Chiari malformation ORPHA:261102
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Cerebral atrophy, Atrophy of th... ORPHA:445062
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Oligospermia ORPHA:1646
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy OMIM:302500
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis OMIM:608634
Congenital Disorder Of Glycosylation, Type Iy
Deeply set eye, Failure to thrive OMIM:300934
Mitochondrial Complex I Deficiency, Nuclear Type 5
Cerebellar atrophy, Progressive microcephaly, Leukoencephalopathy, Brain atrophy OMIM:618226
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Deeply set eye, Progressive spastic paraplegia, Obesity ORPHA:521390
Developmental And Epileptic Encephalopathy 93
Hypoplasia of the corpus callosum, Cerebellar atrophy, Cerebral atrophy, Microcephaly OMIM:618012
Peho Syndrome
Porencephalic cyst, Biparietal narrowing, Ventriculomegaly, Cerebral cortical atrophy, Cerebellar... ORPHA:2836
Autosomal Dominant Spastic Paraplegia Type 41
Degeneration of the lateral corticospinal tracts, Lower limb spasticity, Spastic gait, Progressiv... ORPHA:320355
Mitochondrial Complex I Deficiency, Nuclear Type 19
Secondary microcephaly, Ventriculomegaly, Cerebellar atrophy OMIM:618241
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly OMIM:614870
Spastic Paraplegia 7, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Dysdiadochokinesis, Spastic paraplegia, Gait at... OMIM:607259
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Small nail, Hypergonadotropic hypogonadism, Deeply set eye, Short stature, Fai... ORPHA:163971
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Leukoencephalopathy OMIM:618387
Combined Oxidative Phosphorylation Defect Type 27
Diffuse cerebellar atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter mor... ORPHA:477774
6P22 Microdeletion Syndrome
Deeply set eye, Hypotelorism, Hydrocephalus ORPHA:251046
Deafness, Dystonia, And Cerebral Hypomyelination
Microcephaly, Cerebellar atrophy, Cerebral atrophy OMIM:300475
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Amyotrophic lateral sclerosis, Parkinsonism, Abnormal lower motor neuron morphology, Paralysis OMIM:105500
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Hypoplasia of the corpus callosum, Ventriculomegaly, Arnold-Chiari type I malforma... OMIM:218350
Epithelial Recurrent Erosion Dystrophy
Epiphora OMIM:122400
Joubert Syndrome 2
Thickened superior cerebellar peduncle, Hypoplasia of the brainstem, Brainstem dysplasia, Enlarge... OMIM:608091
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Ventriculomegaly, Simplified gyral pattern, Macrocephaly, Colpocepha... OMIM:615219
Joubert Syndrome 1
Self-mutilation, Hypoplasia of the brainstem, Aggressive behavior, Brainstem dysplasia, Cerebella... OMIM:213300
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Cerebral atrophy OMIM:607250
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Hypoplasia of the corpus callosum, Neurodegeneration, Cerebral atrophy, Cerebral cortical atrophy... OMIM:617672
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Polymicrogyria, Cerebellar atrophy, Microcephaly, Agenesis of corpus ... OMIM:614833
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Cerebral cortical a... OMIM:617481
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Urocanase Deficiency
Tremor, Ataxia, Fair hair, Short stature, Blue irides OMIM:276880
Blepharonasofacial Malformation Syndrome
Lacrimation abnormality, Abnormal eyelash morphology, Low posterior hairline, Sparse lateral eyebrow ORPHA:1252
Corneal Dystrophy, Meesmann, 2
Epiphora OMIM:618767
Early-Onset Schizophrenia
Low self esteem, Shyness, Depression, Abnormal emotion/affect behavior, Impairment in personality... ORPHA:96369
Krabbe Disease
Increased CSF protein, Diffuse cerebral atrophy, Hydrocephalus, Neurodegeneration OMIM:245200
Spinocerebellar Ataxia 12
Cerebral cortical atrophy, Cerebellar atrophy OMIM:604326
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Elevated CSF fumarate, Increased CSF lactate, Cerebellar atrophy, Cerebral atrophy OMIM:619060
Paganini-Miozzo Syndrome
Dilation of lateral ventricles OMIM:301025
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Inability to walk, Hypoplasia of the corpus callosum, Cerebellar dysplasia, Cerebellar hypoplasia... OMIM:613155
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration OMIM:300894
Frontonasal Dysplasia 2
Hypertelorism, Sparse hair, Decreased lacrimation, Sparse and thin eyebrow, Alopecia, Sparse eyel... OMIM:613451
Aicardi-Goutieres Syndrome 1
Spasticity, Morphological abnormality of the pyramidal tract, Abnormality of extrapyramidal motor... OMIM:225750
Kohlschutter-Tonz Syndrome-Like
Inability to walk, Overweight, Ventriculomegaly, Ataxia, Decreased body weight, Secondary microce... OMIM:619229
Chromosome 1Q41-Q42 Deletion Syndrome
Holoprosencephaly, Deeply set eye, Hypotelorism, Short stature OMIM:612530
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Autosomal Dominant Spastic Paraplegia Type 38
Degeneration of the lateral corticospinal tracts, Lower limb spasticity, Spastic gait, Babinski s... ORPHA:171617
Combined Oxidative Phosphorylation Deficiency 29
Global brain atrophy, Increased CSF lactate, Subependymal cysts, Increased CSF protein, Cerebella... OMIM:616811
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Boucher-Neuhauser Syndrome
Gait ataxia, Spinocerebellar atrophy, Ataxia, Abnormal upper motor neuron morphology, Cerebellar ... OMIM:215470
Pituitary Hormone Deficiency, Combined, 1
Deeply set eye, Severe postnatal growth retardation, Short stature OMIM:613038
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased lacrimation, Failure to thrive, Short stature, Alopecia, Fragile nails OMIM:242150
Paroxysmal Extreme Pain Disorder
Lacrimation abnormality OMIM:167400