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Gene: L1cam MGI:96721

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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-NCAM,  L1,  NCAM-L1,  CD171

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Macrocephaly OMIM:307000
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:2182
Masa Syndrome
Agenesis of corpus callosum, Ventriculomegaly ORPHA:2466
X-Linked Complicated Spastic Paraplegia Type 1
Mental deterioration, Ataxia, Cognitive impairment ORPHA:306617
X-Linked Complicated Corpus Callosum Dysgenesis
Aganglionic megacolon, Cerebellar hypoplasia ORPHA:1497

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
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
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
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)
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, Rodríguez 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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for L1cam

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to L1cam.

No publications found that use IMPC mice or data for L1cam.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
L1camtm452230(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
L1camtm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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