Gene: Jhy MGI:1918239

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

junctional cadherin complex regulator

Synonyms:

4931429I11Rik

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 Jhy 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.

Human diseases associated with Jhy (0 diseases)
Human diseases predicted to be associated with Jhy (904 diseases)

No human diseases associated to this gene by orthology or annotation.

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

Disease	Matching phenotypes	Source
Hydrocephalus, Congenital, 1	Ventriculomegaly, Hydrocephalus	OMIM:236600
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Ventriculomegaly, Tremor, Gait disturbance, Normal pressure hydrocephalus, Kinetic tremor	OMIM:611808
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Subcortical cerebral atrophy, Hydroceph...	ORPHA:2703
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Pineocytoma	Difficulty walking, Increased CSF protein concentration, Hydrocephalus, Episodic ataxia	ORPHA:251912
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hypertonia, Hydrocephalus, Hemiplegia/hemiparesis	ORPHA:2807
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Ventriculomegaly, Hydrocephalus	OMIM:615938
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Hemiplegia/hemiparesis, Cerebral palsy, Ataxia	ORPHA:99966
Alg13-Cdg	Clumsiness, Abnormal lateral ventricle morphology, Global brain atrophy, Decreased body weight	ORPHA:324422
Juvenile Huntington Disease	Broad-based gait, Ventriculomegaly, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Myoclo...	ORPHA:248111
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ventriculomegaly, Hydrocephalus, Ataxia	OMIM:618709
Dandy-Walker Syndrome	Truncal ataxia, Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Leukoencephalopathy, Progressive, With Ovarian Failure	Spasticity, Cerebellar atrophy, Lateral ventricle dilatation, Hand tremor, Neurodegeneration, Bab...	OMIM:615889
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Ventriculomegaly, Hydrocephalus	OMIM:615937
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Ventriculomegaly, Hydrocephalus	OMIM:604213
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive	OMIM:129850
Masa Syndrome	Spastic paraplegia, Shuffling gait, Ventriculomegaly, Paraplegia, Agenesis of corpus callosum, Lo...	OMIM:303350
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Gait ataxia, Myoclonus, Tremor, ...	OMIM:615362
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Alexander Disease Type I	Spasticity, Cerebellar atrophy, Failure to thrive, Cachexia, Abnormal pyramidal sign, Hydrocephal...	ORPHA:363717
Lissencephaly 4	Babinski sign, Colpocephaly, Hypertonia, Agenesis of corpus callosum	OMIM:614019
Methylmalonic Acidemia With Homocystinuria	Gait disturbance, Hydrocephalus, Failure to thrive	ORPHA:26
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
X-Linked Parkinsonism-Spasticity Syndrome	Spasticity, Spastic paraparesis, Dilated third ventricle, Resting tremor, Lateral ventricle dilat...	ORPHA:363654
Central Neurocytoma	Pain insensitivity, Abnormal lateral ventricle morphology, Paresthesia, Babinski sign, Hydrocepha...	ORPHA:73256
Autosomal Recessive Spastic Paraplegia Type 66	Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim...	ORPHA:401815
Huntington Disease-Like 2	Cerebral cortical atrophy, Involuntary movements, Chorea, Parkinsonism, Gait disturbance, Caudate...	ORPHA:98934
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation, Difficulty walking, Tremor, Hemiparesis, Parkinsonism, Cerebral cor...	ORPHA:306669
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Brain atrophy, Dandy-Walker ...	OMIM:617967
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Small for gestational age, Cerebellar vermis atrophy, Increased CSF lactate, Dilated fourth ventr...	OMIM:619054
Alexander Disease	Increased CSF protein concentration, Spasticity, Dysmetria, Babinski sign, Hydrocephalus, Ataxia,...	OMIM:203450
Huntington Disease-Like 1	Cerebral cortical atrophy, Involuntary movements, Ventriculomegaly, Cerebellar atrophy, Incoordin...	ORPHA:157941
Band Heterotopia	Ventriculomegaly, Spasticity, Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocep...	OMIM:600348
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Somatic sensory dysfunction, Hand tremor, Impaired pain sensation, ...	ORPHA:99947
Papillary Tumor Of The Pineal Region	Difficulty walking, Increased CSF protein concentration, Hydrocephalus, Episodic ataxia	ORPHA:251915
Diaminopentanuria	Neurodegeneration, Spasticity, Ataxia	OMIM:222350
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Spasticity, Cerebral atrophy, Babinski sign, Abnormal pyramidal sign, Hydrocephalus	OMIM:615599
2,4-Dienoyl-Coa Reductase Deficiency	Spasticity, Ventriculomegaly, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Incoordina...	OMIM:616034
Diencephalic Syndrome	Cachexia, Hydrocephalus, Decreased body weight	ORPHA:1672
1Q21.1 Microduplication Syndrome	Failure to thrive, Hydrocephalus, Hypertonia	ORPHA:250994
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Hydrocephalus, Tremor, Spastic tetraparesis	OMIM:619470
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Spasticity, Cerebral atrophy, Babinski sign, Abnormal pyramidal sign, Hydrocephalus	ORPHA:397951
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, N...	OMIM:617672
Fried Syndrome	Gait disturbance, Hydrocephalus, Spastic diplegia	ORPHA:85335
Gómez-López-Hernández Syndrome	Hydrocephalus, Impaired pain sensation, Ataxia	ORPHA:1532
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Developmental And Epileptic Encephalopathy 36	Abnormal pyramidal sign, Hydrocephalus, Cerebral atrophy, Abnormality of extrapyramidal motor fun...	OMIM:300884
Martsolf Syndrome 2	Decreased body weight, Brain atrophy, Lateral ventricle dilatation, Spastic diplegia	OMIM:619420
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Leukoencephalopathy With Vanishing White Matter 5	Loss of ambulation, Dilated third ventricle, Lateral ventricle dilatation, Decreased CSF asialotr...	OMIM:620315
Pontocerebellar Hypoplasia, Type 15	Agenesis of corpus callosum, Hydrocephalus, Hypertonia, Partial agenesis of the corpus callosum, ...	OMIM:619302
Krabbe Disease	Increased CSF protein concentration, Failure to thrive, Neurodegeneration, Diffuse cerebral atrop...	OMIM:245200
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Ventriculomegaly, Hydrocephalus	OMIM:614830
Ceroid Lipofuscinosis, Neuronal, 7	Neurodegeneration, Cerebellar atrophy, Cerebral atrophy, Ataxia	OMIM:610951
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology, Gait imbalance, Gait ataxia, Cerebellar atrophy	ORPHA:488635
Intellectual Developmental Disorder, Autosomal Recessive 68	Small for gestational age, Cerebellar atrophy, Hydrocephalus	OMIM:618302
Pontocerebellar Hypoplasia, Type 14	Hydrocephalus, Spastic tetraplegia, Hypertonia, Agenesis of corpus callosum	OMIM:619301
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Aicardi-Goutieres Syndrome 4	Ventriculomegaly, Spasticity, Cerebellar atrophy, Cerebral atrophy, CSF lymphocytic pleiocytosis,...	OMIM:610333
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Spastic paraplegia, Cerebellar atrophy, Difficulty walking, Neurodegeneration, Dysmetria, Ankle c...	OMIM:612319
Holoprosencephaly 5	Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph...	OMIM:609637
Corpus Callosum, Partial Agenesis Of, X-Linked	Partial agenesis of the corpus callosum, Ventriculomegaly, Spasticity, Hydrocephalus	OMIM:304100
Nasu-Hakola Disease	Cerebral cortical atrophy, Ventriculomegaly, Spasticity, Chorea, Oculomotor apraxia, Hydrocephalus	ORPHA:2770
Spinocerebellar Ataxia 48	Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia...	OMIM:618093
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Inability to walk, Hydrocephalus, Hypertonia, Ataxia, Spastic tetraplegia	OMIM:618174
Christianson Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Gait ataxia, Cachexia, Neuronal ...	ORPHA:85278
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Microphthalmia-Brain Atrophy Syndrome	Spasticity, Lateral ventricle dilatation, Cerebellar vermis atrophy, Diffuse cerebral atrophy, Co...	ORPHA:77299
Hydrocephalus, Congenital, X-Linked	Spastic paraplegia, Spasticity, Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis	OMIM:307000
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Spasticity, Hemiplegia/hemiparesis, Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenos...	ORPHA:2182
Pontocerebellar Hypoplasia, Type 1A	Tongue fasciculations, Cerebral cortical atrophy, Lateral ventricle dilatation, Hand tremor, Fasc...	OMIM:607596
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebral cortical atrophy, Spastic paraparesis, Cerebellar atrophy, Resting tremor, Cerebral atro...	OMIM:615157
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity, Hydrocephalus, Cerebral atrophy	OMIM:616521
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
L1 Syndrome	Spasticity, Hemiplegia/hemiparesis, Gait disturbance, Hydrocephalus, Aqueductal stenosis	ORPHA:275543
Congenital Hydrocephalus	Ventriculomegaly, Colpocephaly, Hydrocephalus	ORPHA:2185
Biemond Syndrome Type 2	Obesity, Hydrocephalus	ORPHA:141333
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ventriculomegaly, Occipital encephalocele, Hydrocephalus	ORPHA:324416
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation, Hemiparesis	ORPHA:101071
Spastic Paraplegia 79B, Autosomal Recessive	Spastic paraplegia, Impaired vibratory sensation, Cerebellar atrophy, Cerebral atrophy, Tetrapare...	OMIM:615491
Pulmonary Blastoma	Weight loss	ORPHA:64741
Huntington Disease	Involuntary movements, Degeneration of the striatum, Decreased body mass index, Cerebral atrophy,...	ORPHA:399
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Huntington Disease-Like 2	Cerebral cortical atrophy, Chorea, Action tremor, Rigidity, Weight loss, Bradykinesia	OMIM:606438
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Gait disturbance	OMIM:236690
Hydrolethalus Syndrome 2	Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:614120
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus, Spastic tetraplegia	OMIM:300886
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation, Cerebral atrophy	OMIM:618266
Acalvaria	Holoprosencephaly, Hydrocephalus, Spina bifida	ORPHA:945
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Neurodegeneration With Brain Iron Accumulation 6	Spastic paraparesis, Tip-toe gait, Neurodegeneration, Rigidity, Gait disturbance, Bradykinesia, S...	OMIM:615643
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Obesity, Hydrocephalus	ORPHA:2183
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Progressive spasticity, Lateral ventricle dilatation	OMIM:619972
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly	OMIM:614870
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum	ORPHA:1528
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Increased CSF lactate, Gait ataxia, Cachexia, Weight loss	OMIM:612075
Congenital Toxoplasmosis	Failure to thrive in infancy, Ventriculomegaly, Hydrocephalus	ORPHA:858
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Ventriculomegaly, Cachexia, Ataxia	ORPHA:1933
Muscle-Eye-Brain Disease	Hemiplegia/hemiparesis, Gait disturbance, Hydrocephalus, Hypertonia, Meningocele, Holoprosencephaly	ORPHA:588
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Spasticity, Lateral ventricle dilatation, Cerebral atrophy, Myoclonus, Babinski sign, Apraxia, Ga...	OMIM:221770
Lissencephaly 5	Spastic paraplegia, Occipital encephalocele, Hydrocephalus	OMIM:615191
Oxoglutaric Aciduria	Hydrocephalus, Hypertonia, Ataxia	ORPHA:31
Dandy-Walker Malformation With Postaxial Polydactyly	Truncal ataxia, Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Intellectual Developmental Disorder, Autosomal Dominant 56	Spasticity, Broad-based gait, Lateral ventricle dilatation, Inability to walk, Myoclonus, Pontoce...	OMIM:617854
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Unsteady gait, Agenesis of corpus callosum, Hydrocephalus, Hemiparesis	OMIM:617542
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Opisthotonus, Hydrocephalus, ...	OMIM:207950
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hemiplegia, Gait disturbance, Hydrocephalus	ORPHA:2181
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Williams-Beuren Region Duplication Syndrome	Ventriculomegaly, Failure to thrive, Speech apraxia, Gait disturbance, Hydrocephalus, Small for g...	OMIM:609757
Isaacs Syndrome	Weight loss, Distal sensory impairment, Fasciculations	ORPHA:84142
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Obesity, Hydrocephalus	OMIM:601794
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Cerebral cortical atrophy, Spastic tetraparesis, Lateral ventricle dilatation	OMIM:617668
Glutaric Acidemia I	Lateral ventricle dilatation, Failure to thrive, Rigidity, Opisthotonus, Hydrocephalus, Choreoath...	OMIM:231670
Developmental And Epileptic Encephalopathy 31B	Involuntary movements, Ventriculomegaly, Failure to thrive, Myoclonus, Appendicular spasticity, A...	OMIM:620352
Cerebrooculofacioskeletal Syndrome 1	Ventriculomegaly, Small for gestational age, Cerebellar atrophy, Failure to thrive, Neurodegenera...	OMIM:214150
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Neurodegeneration, Ventriculomegaly	OMIM:620210
Infantile Sialic Acid Storage Disease	Failure to thrive, Hydrocephalus, Cerebral atrophy	OMIM:269920
Congenital Muscular Dystrophy, Fukuyama Type	Ventriculomegaly, Gait disturbance, Hydrocephalus	ORPHA:272
Gerstmann-Straussler Disease	Spasticity, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsoni...	OMIM:137440
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Ventriculomegaly, Spastic paraparesis, Failure to thrive, Hemiparesis, Gait disturbance, Lower li...	ORPHA:395
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Inability to walk, Hydrocephalus	OMIM:613155
Cach Syndrome	Spasticity, Cerebellar atrophy, Lateral ventricle dilatation, Cerebral atrophy, Cerebellar vermis...	ORPHA:135
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventriculomegaly, Lateral ventricle dilatation, Cerebral atrophy, Inability to walk, Abnormal CSF...	ORPHA:79243
Aids Wasting Syndrome	Cachexia, Weight loss	ORPHA:90081
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Spasticity, Lateral ventricle dilatation, Hypertonia	OMIM:618890
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:83473
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Small for gestational age, Lateral ventricle dilatation	OMIM:619278
Idiopathic Achalasia	Weight loss	ORPHA:930
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Spasticity, Ventriculomegaly, Difficulty walking, Neurodegeneration, Rigidity, Agenesis of corpus...	OMIM:618476
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:618577
Coach Syndrome 2	Oculomotor apraxia, Hydrocephalus, Agenesis of corpus callosum	OMIM:619111
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Neurodegeneration, Gait ataxia, Cerebellar atrophy	ORPHA:438134
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss, Ataxia	OMIM:613662
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Cerebral atrophy, Obesity, Hydrocephalus, Hypertonia, Spastic tetraparesis	ORPHA:171839
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Inability to walk, Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:613443
Multiple Sulfatase Deficiency	Increased CSF protein concentration, Ventriculomegaly, Spasticity, Cerebellar atrophy, Cerebral a...	OMIM:272200
Houge-Janssens Syndrome 2	Ventriculomegaly, Inability to walk, Gait ataxia, Agenesis of corpus callosum, Hydrocephalus	OMIM:616362
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Hydrocephalus	OMIM:248000
Pontocerebellar Hypoplasia, Type 7	Tongue fasciculations, Spasticity, Spastic paraplegia, Ventriculomegaly, Cerebral atrophy, Myoclo...	OMIM:614969
Temple Syndrome	Obesity, Small for gestational age, Hydrocephalus	ORPHA:254516
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Spastic paraplegia, Dilated third ventricle, Tip-toe gait, Lateral ventricle dilatation, Cerebral...	OMIM:617296
Hemangioblastoma	Hydrocephalus, Dysesthesia	ORPHA:252054
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Lateral ventricle dilatation, Agenesis of corpus callosum, Hemiparesis, Oromo...	ORPHA:300573
Combined Oxidative Phosphorylation Defect Type 29	Diffuse cerebellar atrophy, Increased CSF protein concentration, Global brain atrophy, Neurodegen...	ORPHA:478029
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Spasticity, Small for gestational age, Lateral ventricle dilatation, Cerebral palsy, Cerebral atr...	OMIM:619847
Edinburgh Malformation Syndrome	Failure to thrive, Hydrocephalus, Hypertonia	ORPHA:1895
Severe X-Linked Intellectual Disability, Gustavson Type	Spasticity, Small for gestational age, Lateral ventricle dilatation, Dilated fourth ventricle, My...	ORPHA:3078
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:602501
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Ataxia	ORPHA:1861
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation	OMIM:616816
Adams-Oliver Syndrome 2	Hydrocephalus, Limb hypertonia, Lateral ventricle dilatation, Cerebral atrophy	OMIM:614219
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Hemiparesis	ORPHA:398189
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hydranencephaly, Akinesia, Agenesis of corpus callosum, Hydrocephalus, Dandy-Wa...	OMIM:225790
Houge-Janssens Syndrome 1	Ventriculomegaly, Gait ataxia, Hydrocephalus	OMIM:616355
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Neurodegeneration, Chorea, Tremor, Rigidity, Babinski sign, Parkinsoni...	OMIM:606159
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Akinesia, Tremor, R...	OMIM:300894
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation, Poor fine motor coordination	OMIM:618330
Amelocerebrohypohidrotic Syndrome	Spasticity, Hydrocephalus	ORPHA:1946
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:613153
Arachnoiditis	Paresthesia, Hydrocephalus	ORPHA:137817
Intellectual Developmental Disorder, X-Linked 30	Clumsiness, Hydrocephalus	OMIM:300558
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Gait disturbance, Hydrocephalus, Small for gestational age	OMIM:613330
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Ventriculomegaly, Cerebral atrophy, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus	OMIM:620156
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventriculomegaly, Oculomotor apraxia, Obesity, Hydrocephalus	OMIM:615630
Hsd10 Disease, Infantile Type	Frontotemporal cerebral atrophy, Poor coordination, Cerebral atrophy, Neurodegeneration, Increase...	ORPHA:391428
Temple Syndrome	Obesity, Hydrocephalus, Truncal obesity, Overweight, Small for gestational age	OMIM:616222
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Lateral ventricle dilatation, Failure to thrive in infancy, Myoclonus, Hypertonia, Spastic tetrap...	ORPHA:284417
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Ventriculomegaly, Failure to thrive, Cerebral palsy, Colpocephaly, Hydrocephalus, Ataxia	OMIM:619833
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Ventriculomegaly, Cerebral atrophy, Neurodegeneration, Chorea, Gait ataxia, Myoclonus, Ataxia, Sp...	OMIM:618321
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Failure to thrive, Hydrocephalus, Hypertonia, Brain atrophy, Dandy-Walker malformation	OMIM:612938
Juvenile Amyotrophic Lateral Sclerosis	Tip-toe gait, Amyotrophic lateral sclerosis, Difficulty walking, Inability to walk, Chorea, Spast...	ORPHA:300605
Cerebral Visual Impairment	Central nervous system degeneration, Cerebral palsy, Neurodegeneration, Clumsiness, Oculomotor ap...	ORPHA:447788
Methylcobalamin Deficiency Type Cble	Ventriculomegaly, Failure to thrive, Hydrocephalus, Brain atrophy, Lower limb hypertonia	ORPHA:2169
Pontocerebellar Hypoplasia, Type 13	Failure to thrive, Lateral ventricle dilatation, Inability to walk, Gait ataxia, Dandy-Walker mal...	OMIM:618606
Combined Oxidative Phosphorylation Defect Type 39	Involuntary movements, Tip-toe gait, Lateral ventricle dilatation, Cerebral atrophy, Increased CS...	ORPHA:565624
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Difficulty walking, Fa...	ORPHA:488627
Glutaryl-Coa Dehydrogenase Deficiency	Poor motor coordination, Ventriculomegaly, Chorea, Pallidal degeneration, Tremor, Rigidity, Subep...	ORPHA:25
Pettigrew Syndrome	Spasticity, Ventriculomegaly, Gait ataxia, Hydrocephalus, Aqueductal stenosis, Choreoathetosis, D...	OMIM:304340
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Partial agenesis of the corpus callosum, Spasticity, Lateral ventricle dilatation	OMIM:619517
Intestinal Dysmotility Syndrome	Weight loss, Failure to thrive	OMIM:620045
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Inability to walk, Involuntary movements, Lateral ventricle dilatation	OMIM:615716
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	ORPHA:163961
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Abnormal pyramidal sign, Neuronal loss i...	OMIM:256600
Craniofacial Dyssynostosis With Short Stature	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:218350
Craniosynostosis 6	Cerebellar atrophy, Lateral ventricle dilatation, Agenesis of corpus callosum, Spina bifida occul...	OMIM:616602
Joubert Syndrome 3	Oculomotor apraxia, Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Ataxia	OMIM:608629
Oculopharyngodistal Myopathy	Vocal cord paresis, Difficulty walking, Paraplegia, Loss of ambulation, Weight loss	ORPHA:98897
Autosomal Recessive Spastic Paraplegia Type 11	Cerebral cortical atrophy, Lateral ventricle dilatation, Inability to walk, Obesity, Abnormality ...	ORPHA:2822
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Isolated Succinate-Coq Reductase Deficiency	Spasticity, Spastic paraparesis, Loss of ambulation, Babinski sign, Weight loss, Ataxia, Spastic ...	ORPHA:3208
Halperin-Birk Syndrome	Ventriculomegaly, Semilobar holoprosencephaly, Failure to thrive, Pseudobulbar paralysis, Inabili...	OMIM:618651
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Tenorio Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Cerebral palsy, Clumsiness, Gait disturbance, Hydroc...	OMIM:616260
Thanatophoric Dysplasia Type 2	Encephalocele, Ventriculomegaly, Holoprosencephaly, Hydrocephalus	ORPHA:93274
Developmental And Epileptic Encephalopathy 49	Spasticity, Ventriculomegaly, Myoclonus, Dysplastic corpus callosum, Hydrocephalus, Dandy-Walker ...	OMIM:617281
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:109120
Perry Syndrome	Parkinsonism, Weight loss, Tremor, Abnormality of extrapyramidal motor function	ORPHA:178509
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Spina bifida occulta, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus...	OMIM:618736
Adrenoleukodystrophy	Spastic paraplegia, Incoordination, Neurodegeneration, Limb ataxia, Paraparesis, Truncal ataxia, ...	OMIM:300100
Congenital Muscular Dystrophy With Cerebellar Involvement	Ventriculomegaly, Occipital encephalocele, Dilated fourth ventricle, Agenesis of corpus callosum,...	ORPHA:370959
Glutamine Deficiency, Congenital	Subependymal cysts, Decreased CSF glutamine concentration, Brain atrophy, Lateral ventricle dilat...	OMIM:610015
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Cerebral cortical atrophy, Lateral ventricle dilatation, Apraxia, Parkinsonism, Neuronal loss in ...	OMIM:607485
Pyruvate Dehydrogenase E2 Deficiency	Broad-based gait, Difficulty walking, Speech apraxia, Neurodegeneration, Abnormal CSF pyruvate fa...	ORPHA:79244
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus	OMIM:276950
Alg2-Cdg	Lateral ventricle dilatation	ORPHA:79326
Chronic Hiccup	Weight loss	ORPHA:396
Joubert Syndrome With Renal Defect	Encephalocele, Tremor, Agenesis of corpus callosum, Oculomotor apraxia, Gait disturbance, Hydroce...	ORPHA:220497
Riboflavin Transporter Deficiency	Cerebral cortical atrophy, Myoclonus, Tremor, Cachexia, Ataxia	ORPHA:97229
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
B4Galt1-Cdg	Small for gestational age, Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Bilateral Generalized Polymicrogyria	Spasticity, Lateral ventricle dilatation, Eyelid myoclonus, Paroxysmal dyskinesia, Spastic tetrap...	ORPHA:208447
Wars2-Related Combined Oxidative Phosphorylation Defect	Ventriculomegaly, Cerebellar atrophy, Lateral ventricle dilatation, Cerebral atrophy, Difficulty ...	ORPHA:572798
Neurodegeneration With Brain Iron Accumulation 2B	Spasticity, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Chorea, Gait ataxia, Intenti...	OMIM:610217
Laryngeal Neuroendocrine Tumor	Weight loss	ORPHA:100083
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Hydrocephalus, Failure to thrive	ORPHA:60040
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Classic Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Tip-toe gait, Inability to walk, Opisthotonus, Gait disturbance, Weight loss, Frequen...	ORPHA:216866
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly	OMIM:618731
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus	ORPHA:1914
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Congenital Disorder Of Glycosylation, Type Iil	Ventriculomegaly, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Hydrocephalus	OMIM:614576
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Communicating hydroce...	OMIM:615219
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Obesity, Hydrocephalus	ORPHA:2180
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Griscelli Syndrome	Encephalocele, Spasticity, Hydrocephalus, Ataxia	ORPHA:381
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Cerebellar atrophy, Positive Romberg sign, Myoclonus, Dysmetria, Intention tremor, Babinski sign,...	OMIM:301310
Combined Oxidative Phosphorylation Deficiency 24	Spasticity, Cerebellar atrophy, Neurodegeneration, Increased CSF lactate, Agenesis of corpus call...	OMIM:616239
Giant Axonal Neuropathy 1, Autosomal Recessive	Spastic paraplegia, Lateral ventricle dilatation, Distal sensory impairment, Abnormal pyramidal s...	OMIM:256850
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Spasticity, Global brain atrophy, Cerebral atrophy, Inability to walk, Failure to thrive in infan...	OMIM:616801
Greig Cephalopolysyndactyly Syndrome	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:175700
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus	ORPHA:2701
Pelizaeus-Merzbacher Disease	Cerebral cortical atrophy, Spasticity, Failure to thrive in infancy, Cachexia, Gait disturbance, ...	ORPHA:702
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Intellectual Developmental Disorder, Autosomal Dominant 65	Clumsiness, Agenesis of corpus callosum, Noncommunicating hydrocephalus, Ataxia	OMIM:619320
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus	OMIM:614195
Thanatophoric Dysplasia	Ventriculomegaly, Hydrocephalus	ORPHA:2655
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Cerebral cortical atrophy, Ventriculomegaly, Extra-axial cerebrospinal fluid accumulation, Latera...	OMIM:618291
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus	OMIM:241800
Malan Overgrowth Syndrome	Ventriculomegaly, Lateral ventricle dilatation, Episodic ataxia	ORPHA:420179
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation	OMIM:611134
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus, Failure to thrive	OMIM:620157
Joubert Syndrome	Encephalocele, Tremor, Oculomotor apraxia, Gait disturbance, Hydrocephalus, Ataxia	ORPHA:475
Gm2 Gangliosidosis, Ab Variant	Cerebral atrophy, Neurodegeneration, Chorea, Progressive spastic quadriplegia, Abnormal pyramidal...	ORPHA:309246
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Medulloblastoma	Dysmetria, Hydrocephalus, Ataxia, Cerebellar ataxia associated with quadrupedal gait, Intention t...	ORPHA:616
Fatal Familial Insomnia	Weight loss, Myoclonus, Neuronal loss in central nervous system, Ataxia	OMIM:600072
Aicardi-Goutieres Syndrome 9	Spasticity, Lateral ventricle dilatation, Cerebral atrophy, Failure to thrive, Spastic diplegia, ...	OMIM:619487
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Spasticity, Cachexia, Hydrocephalus, Ataxia	ORPHA:220295
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation, Ankle clonus, Frequent falls, Intention tremor, Lower limb hypertonia	OMIM:619995
Amyotrophic Lateral Sclerosis	Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Neurodegeneration, Babinski sign, Para...	ORPHA:803
Joubert Syndrome With Ocular Defect	Encephalocele, Tremor, Agenesis of corpus callosum, Oculomotor apraxia, Gait disturbance, Hydroce...	ORPHA:220493
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Isolated Posterior Meningocele	Difficulty walking, Paraplegia, Hydrocephalus, Hypertonia, Lipomyelomeningocele, Meningocele, Occ...	ORPHA:268810
Rhombencephalosynapsis	Ventriculomegaly, Hydrocephalus, Ataxia	ORPHA:59315
Peho Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Hydrocephalus, Atrophy/Degenerat...	ORPHA:2836
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal...	OMIM:613154
Dural Sinus Malformation	Myelopathy, Somatic sensory dysfunction, Tetraparesis, Hemiparesis, Parkinsonism, Hydrocephalus, ...	ORPHA:97339
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus, Cerebral atrophy, Decreased body weight	OMIM:614886
Gm2-Gangliosidosis, Ab Variant	Cerebral atrophy, Neurodegeneration, Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exag...	OMIM:272750
Emanuel Syndrome	Ventriculomegaly, Failure to thrive, Cerebral atrophy, Hydrocephalus, Torticollis, Dandy-Walker m...	OMIM:609029
Perry Syndrome	Short stepped shuffling gait, Akinesia, Tremor, Rigidity, Parkinsonism, Weight loss, Bradykinesia	OMIM:168605
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Encephalocele, Hydrocephalus, Meningocele, Holoprosencephaly, Anencephaly	ORPHA:1908
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Ventriculomegaly, Dilated third ventricle, Failure to thrive, Gait disturbance, Hydrocephalus, Ov...	ORPHA:500055
Mulibrey Nanism	Cachexia	ORPHA:2576
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Gait disturbance	ORPHA:157973
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Elevated CSF D-2-hydroxyglutaric acid concentration, Lateral ventricle dilata...	OMIM:600721
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Broad-based gait, Atrophy/Degeneration involving the spinal cord, Positive Romberg sign, Myoclonu...	OMIM:607459
Allergic Bronchopulmonary Aspergillosis	Cerebral cortical atrophy, Weight loss	ORPHA:1164
Slc35A2-Cdg	Cerebellar atrophy, Lateral ventricle dilatation, Cerebral atrophy, Inability to walk, Failure to...	ORPHA:356961
Alexander Disease	Spasticity, Failure to thrive, Chorea, Tremor, Agenesis of corpus callosum, Abnormal pyramidal si...	ORPHA:58
Plasminogen Deficiency, Type I	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:217090
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventriculomegaly, Hydrocephalus	OMIM:603387
Ventriculomegaly With Cystic Kidney Disease	Ventriculomegaly, Hydrocephalus	OMIM:219730
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Flynn-Aird Syndrome	Cerebral cortical atrophy, Cachexia, Impaired pain sensation, Ataxia	ORPHA:2047
Congenital Sialidosis Type 2	Spasticity, Myoclonus, Dysmetria, Hydrocephalus, Ataxia	ORPHA:93400
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Neurodegeneration With Brain Iron Accumulation 4	Spasticity, Cerebellar atrophy, Neurodegeneration, Tremor, Abnormality of extrapyramidal motor fu...	OMIM:614298
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Cerebellar atrophy, Hydrocephalus, Aqueductal stenosi...	OMIM:619895
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, Hypertonia, Ataxia	ORPHA:2720
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Lhermitte-Duclos Disease	Hydrocephalus, Ataxia	ORPHA:65285
Whipple Disease	Myoclonus, Cachexia, Abnormal pyramidal sign, Hydrocephalus, Ataxia	ORPHA:3452
Arachnoid Cyst	Enlarged fossa interpeduncularis, Tetraparesis, Inability to walk, Paresthesia, Encephalocele, Di...	ORPHA:2356
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Ataxia, Meningocele, Dandy-Walker malformation	OMIM:614424
Joubert Syndrome 2	Enlarged fossa interpeduncularis, Failure to thrive, Encephalocele, Oculomotor apraxia, Hydroceph...	OMIM:608091
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Hemiplegia/hemiparesis	ORPHA:1647
Cog5-Cdg	Cerebellar atrophy, Lateral ventricle dilatation, Diffuse cerebral atrophy, Atrophy/Degeneration ...	ORPHA:263487
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Gracile Bone Dysplasia	Hydrocephalus, Failure to thrive	OMIM:602361
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Agenesis of corpus callo...	OMIM:619244
1Q44 Microdeletion Syndrome	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:238769
Den Hoed-De Boer-Voisin Syndrome	Spasticity, Ventriculomegaly, Global brain atrophy, Lateral ventricle dilatation, Inability to wa...	OMIM:619229
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
X-Linked Intellectual Disability, Wilson Type	Lateral ventricle dilatation	ORPHA:85290
Weiss-Kruszka Syndrome	Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:618619
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Moynahan Syndrome	Cachexia	ORPHA:2574
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus, Ataxia	ORPHA:2318
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Bresek Syndrome	Hydrocephalus	ORPHA:85284
Reticular Dysgenesis	Weight loss, Failure to thrive	ORPHA:33355
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Dandy-Walker malformation	OMIM:220210
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Failure to thrive, Agenesis of corpus callosum	OMIM:612940
Classic Hodgkin Lymphoma	Weight loss, Ataxia	ORPHA:391
Mitochondrial Neurogastrointestinal Encephalomyopathy	Increased CSF protein concentration, Cachexia, Paresthesia, Weight loss	ORPHA:298
Rett Syndrome	Cerebral cortical atrophy, Spasticity, Gait ataxia, Cachexia, Gait apraxia, Truncal ataxia	OMIM:312750
Osteopetrosis, Autosomal Recessive 1	Facial paralysis, Hydrocephalus, Failure to thrive	OMIM:259700
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Emanuel Syndrome	Ventriculomegaly, Failure to thrive, Cerebral atrophy, Agenesis of corpus callosum, Hydrocephalus...	ORPHA:96170
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Desmosterolosis	Ventriculomegaly, Spasticity, Failure to thrive, Rigidity, Agenesis of corpus callosum, Hydroceph...	ORPHA:35107
Desmosterolosis	Ventriculomegaly, Spasticity, Failure to thrive, Hydrocephalus, Partial agenesis of the corpus ca...	OMIM:602398
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:77298
Erythrokeratodermia Variabilis	Weight loss	ORPHA:317
Osteootohepatoenteric Syndrome	Weight loss, Hydrocephalus, Failure to thrive	OMIM:619377
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Ventriculomegaly, Gait disturbance, Hydrocephalus, Agenesis of corpus callosum	ORPHA:1812
Hydrolethalus	Anencephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:2189
Rhabdoid Tumor	Hemiplegia, Weight loss, Cerebral palsy	ORPHA:69077
Hereditary Late-Onset Parkinson Disease	Cerebral cortical atrophy, Shuffling gait, Resting tremor, Akinesia, Rigidity, Parkinsonism, Park...	ORPHA:411602
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Agenesis of corpus callosum	OMIM:615249
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Oculomotor apraxia, Hydrocephalus, Dandy-Walker malformation	OMIM:617822
Osteopetrosis, Autosomal Recessive 2	Facial paralysis, Hydrocephalus	OMIM:259710
Infantile Krabbe Disease	Hyperesthesia, Increased CSF protein concentration, Spasticity, Failure to thrive, Myoclonus, Ank...	ORPHA:206436
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Ventriculomegaly, Choroid plexus cyst, Hydrocephalus	OMIM:617866
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Spasticity, Global brain atrophy, Neurodegeneration, Akinesia, Cerebral degenerati...	OMIM:234200
Triploidy	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:3376
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Adams-Oliver Syndrome	Failure to thrive, Encephalocele, Hemiparesis, Hydrocephalus, Hypertonia	ORPHA:974
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Spasticity, Cerebellar atrophy, Hydrocephalus, Cerebral atrophy	OMIM:618590
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Diabetic Embryopathy	Spinal dysraphism, Hydrocephalus	ORPHA:1926
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spasticity, Lateral ventricle dilatation, Inability to walk, Spastic ataxia, Oculomotor apraxia, ...	ORPHA:300570
Xfe Progeroid Syndrome	Ventriculomegaly, Poor coordination, Cachexia, Failure to thrive	OMIM:610965
Central Diabetes Insipidus	Weight loss, Failure to thrive	ORPHA:178029
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss, Periodic paralysis, Tremor	OMIM:613239
Fanconi Anemia, Complementation Group I	Colpocephaly, Agenesis of corpus callosum, Decreased body weight	OMIM:609053
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Cerebral cortical atrophy, Athetosis, Hydrocephalus	OMIM:239300
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:617751
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Hypertonia, Lateral ventricle dilatation, Cerebral palsy	OMIM:618914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Ventriculomegaly, Hydrocephalus	OMIM:616538
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Cerebral atrophy, Neurodegeneration, Gait ataxia, Gait disturbance, Clonus, Ataxia, Poor coordina...	OMIM:616878
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia, Hypertonia	ORPHA:1389
X-Linked Creatine Transporter Deficiency	Chorea, Cachexia, Hypertonia, Ataxia, Athetosis	ORPHA:52503
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:459061
Trisomy 1Q	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:261344
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Liposarcoma	Paresthesia, Weight loss	ORPHA:69078
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Cerebral atrophy, Ataxia	OMIM:616084
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Parietal cortical atrophy, Lateral ventricle dilatation	OMIM:620075
Pleural Mesothelioma	Weight loss	ORPHA:50251
Thanatophoric Dysplasia Type 1	Ventriculomegaly, Hydrocephalus	ORPHA:1860
Mucopolysaccharidosis, Type Ii	Neurodegeneration, Hydrocephalus	OMIM:309900
Rabin-Pappas Syndrome	Failure to thrive in infancy, Obesity, Hydrocephalus	OMIM:620155
Follicular Lymphoma	Weight loss	ORPHA:545
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Tremor, Oculomotor apraxia, Gait disturbance, Hydrocephalus, Ataxia	ORPHA:1454
Thymic Carcinoma	Diaphragmatic paralysis, Weight loss	ORPHA:99868
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Large for gestational age, Gait ...	OMIM:617011
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:612863
Achondroplasia	Obesity, Hydrocephalus	ORPHA:15
Acquired Aneurysmal Subarachnoid Hemorrhage	Increased CSF lactate, Hydrocephalus, Hyperglycorrhachia	ORPHA:90065
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida, Waddling gait	ORPHA:2839
Non-Functioning Paraganglioma	Weight loss, Vocal cord paralysis, Tremor	ORPHA:94080
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida	ORPHA:2437
Osteopetrosis, Autosomal Recessive 5	Ventriculomegaly, Cerebral atrophy, Limb hypertonia, Clonus, Hypertonia, Hydrocephalus, Spastic t...	OMIM:259720
Fg Syndrome Type 1	Ventriculomegaly, Broad-based gait, Hydrocephalus, Slender build	ORPHA:93932
Axial Mesodermal Dysplasia Spectrum	Cerebral cortical atrophy, Hydrocephalus	ORPHA:1834
Walker-Warburg Syndrome	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:899
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:612582
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Ventriculomegaly, Brain atrophy, Hydrocephalus	OMIM:613603
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Tetraplegia, Small for gestational ...	OMIM:257300
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Poor gross motor coordination, Lateral ventricle dilatation, Cerebral palsy	ORPHA:2148
47,Xyy Syndrome	Azoospermia, Hydrocephalus, Oligozoospermia	ORPHA:8
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Periodic paralysis	OMIM:188580
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Spasticity, Dilated third ventricle, Hydranencephaly, Lateral ventricle dilatation, Inability to ...	OMIM:620371
Trisomy 17P	Hydrocephalus, Hypertonia	ORPHA:261290
Hypercalcemia, Infantile, 1	Weight loss, Failure to thrive	OMIM:143880
Tetrasomy 5P	Hydrocephalus, Failure to thrive	ORPHA:3309
Holocarboxylase Synthetase Deficiency	Weight loss, Ataxia	ORPHA:79242
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Agenesis of corpus callosum, Hydrocephalus, Exaggerated startle response, Holopros...	OMIM:253800
Multiple System Atrophy 1, Susceptibility To	Neurodegeneration, Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia	OMIM:146500
Neuropathy, Congenital Hypomyelinating, 3	Babinski sign, Spasticity, Cachexia, Cerebellar atrophy	OMIM:618186
Mirage Syndrome	Paraplegia, Hydrocephalus, Decreased body weight	OMIM:617053
Choreoacanthocytosis	Blepharospasm, Impaired vibratory sensation, Involuntary movements, Poor motor coordination, Fall...	ORPHA:2388
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
3C Syndrome	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	ORPHA:7
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Gm1 Gangliosidosis	Ataxia, Spasticity, Failure to thrive, Tremor, Abnormality of extrapyramidal motor function, Gait...	ORPHA:354
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Dilated third ventricle, Failure to thrive, Lateral ventricle dilatation, Hydrocephalus, Overweight	OMIM:619575
Hereditary Cryohydrocytosis With Reduced Stomatin	Spastic paraplegia, Hypoglycorrhachia, Hypertonia, Ataxia, Communicating hydrocephalus	ORPHA:168577
Focal Myositis	Weight loss	ORPHA:48918
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Ventriculomegaly, Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation,...	ORPHA:397715
Fanconi Anemia, Complementation Group B	Ventriculomegaly, Hydrocephalus	OMIM:300514
Wilson Disease	Failure to thrive, Difficulty walking, Increased body weight, Clumsiness, Weight loss	ORPHA:905
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Eosinophilic Fasciitis	Paresthesia, Weight loss	ORPHA:3165
Spondyloenchondrodysplasia	Ventriculomegaly, Spasticity, Chorea, Abnormal lateral ventricle morphology	ORPHA:1855
Pseudo-Torch Syndrome 2	Ventriculomegaly, Lateral ventricle dilatation	OMIM:617397
Distal Deletion 10Q	Spasticity, Lateral ventricle dilatation, Failure to thrive, Oculomotor apraxia, Clonus, Ataxia, ...	ORPHA:96148
Pfapa Syndrome	Weight loss	ORPHA:42642
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus	OMIM:601499
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Lateral ventricle dilatation	OMIM:614105
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Spina bifida occulta, Hydrocephalus	OMIM:613686
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Lowry-Maclean Syndrome	Hydrocephalus, Hemiparesis	ORPHA:2409
Mcdonough Syndrome	Cachexia	ORPHA:2471
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Neuroblastoma, Susceptibility To, 1	Weight loss, Myoclonus, Failure to thrive, Ataxia	OMIM:256700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Ventriculomegaly, Encephalocele, Hydrocephalus, Partial agenesis of the corpus callosum, Dandy-Wa...	OMIM:614643
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Oromandibular Dystonia	Blepharospasm, Weight loss, Torticollis, Hyperkinetic movements	ORPHA:93958
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:613150
Bone Dysplasia, Lethal Holmgren Type	Weight loss, Failure to thrive	ORPHA:1842
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Ataxia-Telangiectasia-Like Disorder 2	Neurodegeneration, Unsteady gait, Cerebellar atrophy, Ataxia	OMIM:615919
Distal Triplication 15Q	Large for gestational age, Hydrocephalus, Dandy-Walker malformation	ORPHA:314588
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus	ORPHA:2969
Monosomy 18Q	Failure to thrive, Slender build, Hydrocephalus, Poor coordination, Choreoathetosis	ORPHA:1600
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Multiple Sulfatase Deficiency	Hydrocephalus	ORPHA:585
Primary Ciliary Dyskinesia	Ventriculomegaly, Hydrocephalus	ORPHA:244
Congenital Disorder Of Glycosylation, Type Iig	Cerebellar atrophy, Lateral ventricle dilatation, Cerebral atrophy, Failure to thrive in infancy,...	OMIM:611209
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Cerebral cortical atrophy, Failure to thrive, Tremor, Abnormality of extrapyramidal motor functio...	OMIM:277400
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus, Frequent falls, Waddling gait	OMIM:620351
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:613001
Genitopalatocardiac Syndrome	Hydrocephalus	ORPHA:2075
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cachexia, Ataxia	ORPHA:42
Chromosome 17P13.1 Deletion Syndrome	Diffuse cerebral atrophy, Hydrocephalus, Spina bifida, Ankle clonus	OMIM:613776
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum	OMIM:300952
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Pain insensitivity, Cerebral cortical atrophy, Hydrocephalus, Distal sensory impairment	OMIM:616007
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hydrocephalus	OMIM:619951
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus	OMIM:314390
Anaplastic Thyroid Carcinoma	Weight loss, Vocal cord paralysis	ORPHA:142
Mucopolysaccharidosis Type 3	Vocal cord paresis, Spasticity, Ventriculomegaly, Central nervous system degeneration, Loss of am...	ORPHA:581
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Spasticity, Broad-based gait, Neurodegeneration, Decreased body weight, Progressive spastic quadr...	OMIM:619475
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Spasticity, Dilated third ventricle, Lateral ventricle dilatation, Large for gestational age, Dys...	ORPHA:544488
Parkinson Disease 4, Autosomal Dominant	Parkinsonism, Weight loss	OMIM:605543
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Failure to thrive, Cerebral atrophy, Atrophy of the spinal cord, Hydrocephalus, Ataxia, Poor fine...	ORPHA:79282
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:3301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Ventriculomegaly, Spasticity, Occipital encephalocele, Agenesis of corpus callosum, Hydrocephalus...	OMIM:615287
Mucopolysaccharidosis, Type Vii	Neurodegeneration, Hydrocephalus	OMIM:253220
Hurler Syndrome	Neurodegeneration, Hydrocephalus	OMIM:607014
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia, Gait disturbance	ORPHA:2774
Immunodeficiency 27A	Weight loss	OMIM:209950
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus	ORPHA:1865
Functioning Gonadotropic Adenoma	Hydrocephalus, Oligozoospermia	ORPHA:91348
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hyperesthesia, Severe failure to thrive, Cachexia, Spastic tetraplegia	ORPHA:371364
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Cardiofaciocutaneous Syndrome 1	Cerebral cortical atrophy, Failure to thrive, Oculomotor apraxia, Hydrocephalus, Hypertonia	OMIM:115150
Pseudotrisomy 13 Syndrome	Encephalocele, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:264480
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spastic paraplegia, Broad-based gait, Ventriculomegaly, Azoospermia, Limb ataxia, Paralysis, Cach...	ORPHA:2072
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Partial agenesis of the corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:620113
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Difficulty walking, Slender build, Large for gestati...	ORPHA:457359
Graves Disease	Weight loss	OMIM:275000
Takayasu Arteritis	Weight loss	ORPHA:3287
Renpenning Syndrome	Cachexia	ORPHA:3242
Apert Syndrome	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:87
Iniencephaly	Spinal dysraphism, Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, Holoprosencephal...	ORPHA:63259
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Unsteady gait, Lateral ventricle dilatation, Ataxia	ORPHA:457279
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Failure to thrive, Agenesis of corpus callosum	ORPHA:250989
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Inability to walk, Colpocephaly, Failure to thrive, Ataxia	OMIM:620083
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Pentalogy Of Cantrell	Encephalocele, Anencephaly, Hydrocephalus	ORPHA:1335
Sturge-Weber Syndrome	Cerebral cortical atrophy, Hydrocephalus	ORPHA:3205
Basel-Vanagaite-Smirin-Yosef Syndrome	Spasticity, Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Difficulty w...	ORPHA:464738
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:617260

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