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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

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 Similarity of
phenotypes
Matching phenotypes Source
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Alexander Disease
Increased CSF protein, Hydrocephalus, Ataxia, Spasticity OMIM:203450
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Ventriculomegaly, Megalencephaly, Hydrocephalus OMIM:615938
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Normal pressure hydrocephalus, Ventriculomegaly, Gait disturbance OMIM:611808
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Ataxia, Abnormal corpus callosum morphology, Cortical dysplasia, Stereotypy, Mi... OMIM:618709
Pineocytoma
Difficulty walking, Increased CSF protein, Episodic ataxia, Hydrocephalus ORPHA:251912
Papilloma Of Choroid Plexus
Hemiplegia/hemiparesis, Hypertonia, Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Ventriculomegaly, Abnormal cerebral white matter morphology, Weigh... ORPHA:248111
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hydrocep... OMIM:615937
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Ataxia, Hemiplegia/hemiparesis, Cerebral calcification, Cerebral palsy ORPHA:99966
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Diffuse white matter abnormalities, Ventriculomegaly, Hypertonia, Cerebral atrophy, Megalencephal... OMIM:613925
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Dandy-Walker Syndrome
Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Truncal ataxia, Hydroceph... OMIM:220200
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus... OMIM:600348
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Tremor, Neurodegeneration, Ataxia, Cerebellar atrophy, Periventricular leukoma... OMIM:615889
Huntington Disease-Like 2
Dystonia, Abnormal corpus striatum morphology, Chorea, Gait disturbance, Weight loss, Cerebral co... ORPHA:98934
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Cerebral cortical atrophy, C... OMIM:617862
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Cerebellar atrophy, Hyperactivity, M... OMIM:613402
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus callosum, Polymicrogyria, ... OMIM:604213
Alg13-Cdg
Clumsiness, Abnormal lateral ventricle morphology, Decreased body weight, Global brain atrophy ORPHA:324422
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Hydroceph... ORPHA:2703
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Brain atrophy, Hydranencephaly, Hydrocephalus, Dandy-Walker ... OMIM:617967
Edinburgh Malformation Syndrome
Hydrocephalus, Failure to thrive OMIM:129850
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Methylmalonic Acidemia With Homocystinuria
Lethargy, Gait disturbance, Failure to thrive, Microcephaly, Hydrocephalus ORPHA:26
Masa Syndrome
Spastic paraplegia, Agenesis of corpus callosum, Ventriculomegaly, Lower limb spasticity, Microce... OMIM:303350
Central Neurocytoma
Lethargy, Paresthesia, Hydrocephalus, Pain insensitivity, Ataxia, Cerebral calcification, Babinsk... ORPHA:73256
Developmental And Epileptic Encephalopathy 36
Abnormality of extrapyramidal motor function, Cerebral atrophy, Abnormal pyramidal sign, Microcep... OMIM:300884
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Tremor, Difficulty walking, Hemiparesis, Bradykinesia, Brain atrophy, Parkinsonism, Cer... ORPHA:306669
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Babinski sign... ORPHA:363654
Autosomal Recessive Spastic Paraplegia Type 66
Progressive spastic paraplegia, Difficulty walking, Hypoplasia of the corpus callosum, Lower limb... ORPHA:401815
Fanconi Anemia, Complementation Group R
Microcephaly, Hydrocephalus OMIM:617244
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Hypoplasia of the corpus callosum... OMIM:617672
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Increased CSF lactate, Ataxia, Dilated fourth ventricle, Torticollis, Small for gestational age, ... OMIM:619054
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Chorea, Ventriculomegaly, Poor fine motor coordination, ... ORPHA:157941
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Myoclonus, Cerebral calcification, Microcephaly, Hydrocephalus, Dandy-Walker ma... OMIM:617281
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Cerebral atrophy, Abnormal pyramidal sign, Babinski sign, Seco... ORPHA:397951
Pettigrew Syndrome
Gait ataxia, Ventriculomegaly, Abnormality of the basal ganglia, Cerebral calcification, Choreoat... OMIM:304340
Aicardi-Goutieres Syndrome 4
Dystonia, Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, Cerebellar atrophy, C... OMIM:610333
Polymicrogyria Due To Tubb2B Mutation
Oromotor apraxia, Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypop... ORPHA:300573
Papillary Tumor Of The Pineal Region
Difficulty walking, Increased CSF protein, Episodic ataxia, Hydrocephalus ORPHA:251915
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Ventriculomegaly, Hydrocephalus OMIM:614830
Fried Syndrome
Gait disturbance, Spastic diplegia, Hydrocephalus, Cerebral calcification ORPHA:85335
Diencephalic Syndrome
Cachexia, Hydrocephalus, Decreased body weight ORPHA:1672
Gm1-Gangliosidosis, Type Ii
Gait disturbance, Ventriculomegaly, Cerebral atrophy, Ataxia, Spastic tetraplegia OMIM:230600
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Impaired vibratory sensation, Paresthesia, Hand tremor, Poor fine motor coordina... ORPHA:99947
1Q21.1 Microduplication Syndrome
Hypertonia, Attention deficit hyperactivity disorder, Hydrocephalus, Failure to thrive ORPHA:250994
Krabbe Disease
Hypertonia, Neurodegeneration, Increased CSF protein, Failure to thrive, Decerebrate rigidity, Pr... OMIM:245200
Diaminopentanuria
Neurodegeneration, Ataxia, Spasticity OMIM:222350
Spastic Paraplegia 35, Autosomal Recessive
Spastic paraplegia, Dystonia, Spastic paraparesis, Abnormal periventricular white matter morpholo... OMIM:612319
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait ataxia, Hypoplasia of the corpus callosum, Cerebellar atrophy, Abnormal lateral ventricle mo... ORPHA:488635
Kleeblattschaedel
Hydrocephalus OMIM:148800
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Spasticity OMIM:304100
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Cerebral atro... OMIM:615157
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Hemiparesis, Cortical dysplasia, Cerebral hypoplasia, Dilation of lateral ... ORPHA:101071
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613154
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Gómez-López-Hernández Syndrome
Hydrocephalus, Ataxia, Impaired pain sensation ORPHA:1532
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Spastic paraparesis, Hypoplasia of the corpus callosum, Gait disturbance, Neurodegenera... OMIM:615643
Christianson Syndrome
Dystonia, Gait ataxia, Truncal ataxia, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegal... ORPHA:85278
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Cerebral atrophy, Ataxia, Neurodegeneration OMIM:610951
Lissencephaly 5
Spastic paraplegia, Porencephalic cyst, Type II lissencephaly, Hypoplasia of the corpus callosum,... OMIM:615191
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Small cerebral cortex, Abnormal cortical gyration, Colpocephaly,... ORPHA:2185
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Agenesis of corpus callosum, Abnormal periventricular white matter morphology, Ventriculomegaly, ... OMIM:618476
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Cerebral atr... OMIM:300894
Nasu-Hakola Disease
Chorea, Ventriculomegaly, Oculomotor apraxia, Cerebral cortical atrophy, Cerebral calcification, ... ORPHA:2770
Pontocerebellar Hypoplasia, Type 15
Dystonia, Agenesis of corpus callosum, Hypertonia, Spastic tetraplegia, Simplified gyral pattern,... OMIM:619302
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Cerebellar vermis atrophy, Tongue thrusting, Atrophy/Degeneration affect... ORPHA:77299
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Inability to walk, Ventriculomegaly, Oculomotor apraxia, Ataxia, Unsteady gait OMIM:618273
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Spastic paraplegia, Hydrocephalus, Absent septum pellucidum, Aqueductal stenosis, Agenesis of cor... OMIM:307000
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly OMIM:614870
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, He... ORPHA:2182
Spinocerebellar Ataxia 48
Dystonia, Tremor, Gait ataxia, Chorea, Ataxia, Cerebellar atrophy, Parkinsonism, Cachexia, Dysmet... OMIM:618093
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Frontal Encephalocele
Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, Cerebral calcification ORPHA:1931
Hydrolethalus Syndrome 2
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Anencephaly OMIM:614120
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Huntington Disease
Inability to walk, Decreased body mass index, Dystonia, Clumsiness, Difficulty walking, Chorea, G... ORPHA:399
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Agenesis of corpus callosum, Akinesia, Ventriculomegaly, Hydranencephaly, Microcephaly, Hydroceph... OMIM:225790
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Agenesis of corpus callosum, Fusion of the left and right thalami, Abnormality of the anterior co... OMIM:617542
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Ventriculomegaly, Hydrocephalus ORPHA:324416
Leukoencephalopathy, Cystic, Without Megalencephaly
Dystonia, Ventriculomegaly, Ataxia, Cerebral calcification, Leukoencephalopathy, Microcephaly, At... OMIM:612951
Biemond Syndrome Type 2
Hydrocephalus, Obesity ORPHA:141333
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Increased body weight, Hydrocep... ORPHA:759
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dilated fourth ventricl... ORPHA:1170
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Hydrocephalus, Abnormal cerebral white matter morphology ORPHA:352682
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Agenesis of corpus callosum, Hydrocephalus, Dilation of lateral ventricles OMIM:300864
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly ORPHA:250972
Spastic Paraplegia 79, Autosomal Recessive
Spastic paraplegia, Cerebral atrophy, Tetraparesis, Head titubation, Ankle clonus, Ataxia, Neurod... OMIM:615491
L1 Syndrome
Gait disturbance, Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Spasticity ORPHA:275543
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Spastic paraplegia, Partial agenesis of the corpus callosum, Cerebral atrophy, Limb hypertonia, D... OMIM:617296
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum,... ORPHA:1528
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Abnormal cerebral white matter morphology, Ataxia, Weight loss, Cachexia OMIM:613662
Hydrocephalus, Normal-Pressure, 1
Gait disturbance, Normal pressure hydrocephalus OMIM:236690
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Basal ganglia necrosis, Dystonia, Basal ganglia gliosis, Basal ganglia cysts, ... ORPHA:79243
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Pulmonary Blastoma
Weight loss ORPHA:64741
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ventriculomegaly, Ataxia, Cerebral calcification, Cachexia, Microcephaly ORPHA:1933
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Choreoathetosis, Tremor, Chorea, Neurodegeneration, Blepharospasm, Ataxia, Bradykinesia... OMIM:606159
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy, Spastic paraparesis, Abnormal periventricular white matter morphology, Ventriculomegaly... ORPHA:395
Dandy-Walker Malformation With Postaxial Polydactyly
Truncal ataxia, Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Hydroceph... OMIM:220220
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Attention deficit hyperactivity disorder ORPHA:261102
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Gait ataxia, Cachexia, Weight loss OMIM:612075
Huntington Disease-Like 2
Dystonia, Chorea, Action tremor, Weight loss, Bradykinesia, Rigidity OMIM:606438
Congenital Toxoplasmosis
Ventriculomegaly, Failure to thrive in infancy, Cerebral calcification, Microcephaly, Hydrocephalus ORPHA:858
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Truncal ataxia, Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Hydroceph... OMIM:220219
Glutaryl-Coa Dehydrogenase Deficiency
Open operculum, Dystonia, Tremor, Abnormal caudate nucleus morphology, Pallidal degeneration, Poo... ORPHA:25
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Spasticity OMIM:300886
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Type II lissencephaly, Ventriculomegaly, Abnormal cerebral white matter morphology, A... OMIM:613153
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Obesity ORPHA:2183
Spinocerebellar Ataxia Type 17
Dystonia, Generalized cerebral atrophy/hypoplasia, Cerebellar Purkinje layer atrophy, Chorea, Gai... ORPHA:98759
Oxoglutaric Aciduria
Hypertonia, Hydrocephalus, Ataxia ORPHA:31
Achondroplasia
Megalencephaly, Hydrocephalus OMIM:100800
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Hypertonia, Microcephaly, Dilation of lateral ventricles, Spas... OMIM:618890
Tuberculosis
Weight loss ORPHA:3389
Gerstmann-Straussler Disease
Tremor, Apraxia, Truncal ataxia, Gait ataxia, Neurofibrillary tangles, Limb ataxia, Weight loss, ... OMIM:137440
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Ventriculomegaly, Megalencephaly, Polymicrogyria, Hydrocephalus OMIM:602501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Type II lissencephaly, Ventriculomegaly, Anencephaly, Cortical dyspl... OMIM:615287
Muscle-Eye-Brain Disease
Holoprosencephaly, Hypertonia, Gait disturbance, Meningocele, Hemiplegia/hemiparesis, Hydrocephalus ORPHA:588
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Dystonia, Chorea, Eyelid myoclonus, Cerebral atrophy, Hypop... ORPHA:178469
Combined Oxidative Phosphorylation Defect Type 39
Corpus callosum atrophy, Increased CSF lactate, Hypoplasia of the corpus callosum, Loss of abilit... ORPHA:565624
Congenital Muscular Dystrophy, Fukuyama Type
Aplasia/Hypoplasia of the corpus callosum, Type II lissencephaly, Gait disturbance, Ventriculomeg... ORPHA:272
Melanosis, Neurocutaneous
Dandy-Walker malformation, Hydrocephalus, Choroid plexus papilloma OMIM:249400
Cerebral Visual Impairment
Clumsiness, Hydrocephalus, Abnormal cerebral white matter morphology, Neurodegeneration, Oculomot... ORPHA:447788
Xfe Progeroid Syndrome
Microcephaly, Ventriculomegaly, Poor coordination, Cachexia OMIM:610965
Temple Syndrome
Small for gestational age, Truncal obesity, Overweight, Hydrocephalus OMIM:616222
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Microcephaly, Cerebellar atrophy, Gait ataxia, Neurodegeneration ORPHA:438134
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Focal T2 hyperintense basal ganglia lesion, Overweight, Frontal cortical atrop... ORPHA:2822
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Polymicrogyria, Megalencephaly, Hydrocephalus ORPHA:83473
Cach Syndrome
T2 hypointense thalamus, Truncal ataxia, Limb ataxia, Cerebral atrophy, Spastic diplegia, Hemipar... ORPHA:135
Arnold-Chiari Malformation Type Ii
Agenesis of corpus callosum, Partial agenesis of the corpus callosum, Difficulty walking, Parapar... ORPHA:1136
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apraxia, Neurofibrillary tangles, Lewy bodies, Cerebral cortical atrophy, Parkinsonism, Repetitiv... OMIM:607485
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Obesity OMIM:601794
Isaac Syndrome
Fasciculations, Weight loss, Distal sensory impairment ORPHA:84142
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Dystonia, Hypoplasia of the corpus callosum, Eyelid myoclonus... ORPHA:208447
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hemiplegia, Gait disturbance, Hydrocephalus ORPHA:2181
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Mental Retardation, Autosomal Dominant 36
Inability to walk, Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, Hydrocephalus OMIM:616362
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Difficulty walking, Hypoplasia of the corpus callosum, Gait disturbance, Ventriculomegaly, Multif... ORPHA:488627
Severe X-Linked Intellectual Disability, Gustavson Type
Hypertonia, Brain atrophy, Dilated fourth ventricle, Small for gestational age, Myoclonus, Microc... ORPHA:3078
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Abnormality of the septum pellucidum, Hypertonia, Cerebral atrophy, Spastic tetraparesis, Hydroce... ORPHA:171839
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Hypertonia, Spastic tetraparesis, Cerebral white matter hypopl... ORPHA:284417
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:616816
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Small for gestational age, Dilation of lateral ventricles OMIM:619278
Mental Retardation, Buenos Aires Type
Spastic gait, Failure to thrive, Microcephaly, Hydrocephalus, Partial agenesis of the corpus call... OMIM:249630
Multiple Sulfatase Deficiency
Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral atrophy, Ataxia, Inc... OMIM:272200
Juvenile Amyotrophic Lateral Sclerosis
Dystonia, Axial dystonia, Hypertonia, Spastic diplegia, Head titubation, Toe walking, Upper limb ... ORPHA:300605
Infantile Sialic Acid Storage Disease
Cerebral atrophy, Hydrocephalus, Failure to thrive OMIM:269920
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Chiari Malformation Type Ii
Spina bifida, Agenesis of corpus callosum, Ataxia, Opisthotonus, Myelomeningocele, Hydrocephalus OMIM:207950
Temple Syndrome
Small for gestational age, Hydrocephalus, Decreased response to growth hormone stimuation test, O... ORPHA:254516
Craniofacial Dyssynostosis
Hypoplasia of the corpus callosum, Hydrocephalus ORPHA:1516
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Neurofibrillary tangles, Chorea, Hypertonia, Intention... OMIM:610217
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Global brain atrophy, Increased CSF lactate, Poor coordination, Neuro... ORPHA:478029
Focal Facial Dermal Dysplasia Type Iv
Microcephaly, Hemiparesis, Hydrocephalus ORPHA:398189
Hsd10 Disease, Infantile Type
Dystonia, Increased CSF lactate, Poor coordination, Spastic diplegia, Spastic tetraparesis, Hyper... ORPHA:391428
Coach Syndrome 2
Oculomotor apraxia, Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Pontocerebellar Hypoplasia, Type 13
Inability to walk, Gait ataxia, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, Failu... OMIM:618606
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:618577
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Cutis Laxa, Autosomal Recessive, Type Iib
Microcephaly, Agenesis of corpus callosum, Hydrocephalus, Failure to thrive OMIM:612940
Mend Syndrome
Hypertonia, Hydrocephalus, Dandy-Walker malformation, Hyperactivity OMIM:300960
Edinburgh Malformation Syndrome
Hypertonia, Hydrocephalus, Failure to thrive ORPHA:1895
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Abnormal cerebral white matter morphology, Hydrocephalus OMIM:600991
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Ataxia ORPHA:1861
Hemangioblastoma
Hydrocephalus, Dysesthesia ORPHA:252054
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus OMIM:614195
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Dilated fourth ventricle, Polymicrogyria, Stereotypy, Microcep... OMIM:617751
Methylcobalamin Deficiency Type Cble
Lethargy, Ventriculomegaly, Abnormal cerebral white matter morphology, Lower limb hypertonia, Bra... ORPHA:2169
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Hydrocephalus With Associated Malformations
Hydrocephalus OMIM:236640
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Abnormal cerebral cortex morphology ORPHA:163961
Glutaric Acidemia I
Dystonia, Choreoathetosis, Spastic diplegia, Opisthotonus, Failure to thrive, Rigidity, Dilation ... OMIM:231670
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum, Hydrocephalus ORPHA:380
Wars2-Related Combined Oxidative Phosphorylation Defect
Tremor, Abnormal periventricular white matter morphology, Difficulty walking, Ventriculomegaly, C... ORPHA:572798
Mental Retardation, Autosomal Dominant 35
Ventriculomegaly, Hydrocephalus OMIM:616355
Neurodegeneration With Brain Iron Accumulation 2A
Abnormal pyramidal sign, Cerebral atrophy, Neurodegeneration, Ataxia, Unsteady gait, Cerebellar a... OMIM:256600
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Ventriculomegaly, Simplified gyral pattern, Colpocephaly, Lissencephaly OMIM:615219
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Ankle clonus OMIM:613776
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Arachnoiditis
Hydrocephalus, Paresthesia ORPHA:137817
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:617866
Idiopathic Achalasia
Weight loss ORPHA:930
Adrenoleukodystrophy
Spastic paraplegia, Incoordination, Truncal ataxia, Impaired vibration sensation at ankles, Limb ... OMIM:300100
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dilation of lateral ventricles, Spina bifida occulta, Microcephaly, Agenesis of corpus callosum, ... OMIM:618736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Polymicrogyria, Hydrocephalus, Leukoencephalopathy OMIM:615181
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Eye of the tiger anomaly of globus pallidus, Gait disturbance, Toe walking, We... ORPHA:216866
Amelocerebrohypohidrotic Syndrome
Hydrocephalus, Spasticity ORPHA:1946
Craniofacial Dyssynostosis With Short Stature
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:218350
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertonia, Failure to thrive, Lissencephaly, Microcephaly, Hydrocephalus, Dandy-Walker malformat... OMIM:612938
Nephronophthisis 18
Hydrocephalus OMIM:615862
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Oculomotor apraxia, Hydrocephalus, Obesity OMIM:615630
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dystonia, Type II lissencephaly, Spastic diplegia, Torticollis, Spasticity, Spastic ataxia, Hypop... ORPHA:300570
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Hydrocephalus, Anterior hypopituitarism OMIM:241800
Pyruvate Dehydrogenase E2 Deficiency
Eye of the tiger anomaly of globus pallidus, Paroxysmal dystonia, Speech apraxia, Difficulty walk... ORPHA:79244
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Agenesis of corpus callosum, Type II lissencephaly, Ventricul... ORPHA:370959
Combined Oxidative Phosphorylation Deficiency 24
Agenesis of corpus callosum, Increased CSF lactate, Hypoplasia of the corpus callosum, Neurodegen... OMIM:616239
Slc35A2-Cdg
Inability to walk, Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Abnormal cer... ORPHA:356961
Tenorio Syndrome
Cavum septum pellucidum, Clumsiness, Gait disturbance, Ventriculomegaly, Cerebral palsy, Cerebral... OMIM:616260
Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:98293
Williams-Beuren Region Duplication Syndrome
Hypoplasia of the corpus callosum, Gait disturbance, Ventriculomegaly, Hydrocephalus, Attention d... OMIM:609757
Pelizaeus-Merzbacher Disease
Dystonia, Gait disturbance, Ataxia, Failure to thrive in infancy, Cerebral cortical atrophy, Cach... ORPHA:702
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Weight loss ORPHA:100083
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus OMIM:613603
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Pseudobulbar paralysis, Inability to walk, Agenesis of corpus callos... OMIM:618651
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:175700
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:109120
Gm2 Gangliosidosis, Ab Variant
Dystonia, Punctate periventricular T2 hyperintense foci, Chorea, Progressive spastic quadriplegia... ORPHA:309246
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Polymicrogyria, Colpocephaly OMIM:618731
16P13.2 Microdeletion Syndrome
Overweight, Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly, G... ORPHA:500055
Neurodegeneration With Brain Iron Accumulation 4
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Neurodegenerati... OMIM:614298
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dystonia, Lethargy, Chorea, Abnormal cerebral white matter morphology, Cerebral atrophy, Neurodeg... OMIM:618321
Glutamine Deficiency, Congenital
Subependymal cysts, Hypoplasia of the corpus callosum, Dilation of lateral ventricles, Brain atrophy OMIM:610015
Joubert Syndrome 14
Ataxia, Hydrocephalus, Dandy-Walker malformation OMIM:614424
Riboflavin Transporter Deficiency
Tremor, Ataxia, Cerebral cortical atrophy, Myoclonus, Cachexia ORPHA:97229
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Hypoplasia of the... ORPHA:2148
Gm2-Gangliosidosis, Ab Variant
Dystonia, Chorea, Hypertonia, Abnormal pyramidal sign, Spastic tetraparesis, Cerebral atrophy, Pa... OMIM:272750
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Pachygyria, Hypoplasia of the corpus callosum, Megalencephaly, Polymicrogyria, Thick corpus callo... OMIM:603387
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Polymicrogyria, Hydrocephalus, Failure to thrive ORPHA:60040
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Agenesis of corpus callosum, Dilation of lateral ventricles OMIM:300952
Oculopharyngodistal Myopathy
Vocal cord paresis, Difficulty walking, Loss of ability to walk, Weight loss, Paraplegia ORPHA:98897
Cardiofaciocutaneous Syndrome 4
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology OMIM:615280
Congenital Disorder Of Glycosylation, Type Iil
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Cerebellar atrophy, Abnorm... OMIM:614576
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Malan Overgrowth Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Episodic ataxia, Dilation of lateral ventricles ORPHA:420179
Joubert Syndrome With Renal Defect
Tremor, Agenesis of corpus callosum, Gait disturbance, Oculomotor apraxia, Ataxia, Polymicrogyria... ORPHA:220497
Peho Syndrome
Porencephalic cyst, Ventriculomegaly, Cerebral cortical atrophy, Cerebellar atrophy, Atrophy/Dege... ORPHA:2836
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Ventriculomegaly, Hydrocephalus ORPHA:93274
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Multifocal cerebral white matter abnormalities, Dilation of lateral ventricles OMIM:600721
Rhombencephalosynapsis
Ventriculomegaly, Fusion of the left and right thalami, Ataxia, Septo-optic dysplasia, Hydrocephalus ORPHA:59315
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus, Obesity ORPHA:2180
Joubert Syndrome
Tremor, Aplasia/Hypoplasia of the corpus callosum, Gait disturbance, Oculomotor apraxia, Ataxia, ... ORPHA:475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Agenesis of corpus callosum, Type II lissencephaly, Agyria, Microcephaly, Progressive microcephal... OMIM:615249
Intellectual Developmental Disorder, Autosomal Dominant 65
Clumsiness, Noncommunicating hydrocephalus, Dysgenesis of the hippocampus, Ataxia, Agenesis of co... OMIM:619320
Peroxisome Biogenesis Disorder 12A (Zellweger)
Microcephaly, Cerebral atrophy, Hydrocephalus, Decreased body weight OMIM:614886
Medulloblastoma
Lethargy, Ataxia, Progressive cerebellar ataxia, Cerebellar ataxia associated with quadrupedal ga... ORPHA:616
Thanatophoric Dysplasia
Ventriculomegaly, Hydrocephalus ORPHA:2655
Perry Syndrome
Tremor, Parkinsonism, Weight loss, Abnormality of extrapyramidal motor function ORPHA:178509
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Cachexia, Microcephaly, Hydrocephalus, Spasticity ORPHA:220295
Joubert Syndrome 2
Oculomotor apraxia, Enlarged fossa interpeduncularis, Ataxia, Abnormal corpus callosum morphology... OMIM:608091
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Inability to walk, Global brain atrophy, Hypoplasia of the corpus callosum, Hypertonia, Cerebral ... OMIM:616801
Chronic Hiccup
Weight loss ORPHA:396
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Agyria, Cerebral calcificati... OMIM:616538
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis OMIM:276950
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Neurodegeneration With Brain Iron Accumulation 1
Eye of the tiger anomaly of globus pallidus, Dystonia, Choreoathetosis, Eyelid apraxia, Motor tic... OMIM:234200
Moynahan Syndrome
Microcephaly, Cachexia ORPHA:2574
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Flynn-Aird Syndrome
Ataxia, Cerebral cortical atrophy, Cerebral calcification, Cachexia, Impaired pain sensation ORPHA:2047
Hereditary Central Diabetes Insipidus
Lethargy, Weight loss ORPHA:30925
Cog5-Cdg
Truncal ataxia, Cerebral white matter atrophy, Brain atrophy, Cerebellar atrophy, Atrophy/Degener... ORPHA:263487
Kohlschutter-Tonz Syndrome-Like
Inability to walk, Tremor, Overweight, Global brain atrophy, Upper limb spasticity, Ventriculomeg... OMIM:619229
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hypertonia, Abnormality of the diencephalon, Hydrocephalus, Ataxia ORPHA:2720
Lhermitte-Duclos Disease
Polymicrogyria, Hydrocephalus, Ataxia ORPHA:65285
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Meningocele, Microcephaly, Hydrocephalus, Dandy-W... OMIM:611134
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Hydrocephalus OMIM:219730
Oculocerebrocutaneous Syndrome
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Hemiplegia/hemiparesis, Polymicrogyr... ORPHA:1647
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Isolated Succinate-Coq Reductase Deficiency
Spastic paraparesis, Spastic tetraparesis, Lower limb hypertonia, Loss of ability to walk, Ataxia... ORPHA:3208
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Desmosterolosis
Pachygyria, Agenesis of corpus callosum, Absent septum pellucidum, Ventriculomegaly, Hypertonia, ... ORPHA:35107
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Spinal dysraphism, Anencephaly, Men... ORPHA:1908
Griscelli Syndrome
Hydrocephalus, Ataxia, Spasticity ORPHA:381
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Joubert Syndrome With Ocular Defect
Tremor, Agenesis of corpus callosum, Gait disturbance, Oculomotor apraxia, Ataxia, Polymicrogyria... ORPHA:220493
Fanconi Anemia, Complementation Group I
Colpocephaly, Absent septum pellucidum, Decreased body weight, Microcephaly, Agenesis of corpus c... OMIM:609053
Alexander Disease
Tremor, Agenesis of corpus callosum, Chorea, Gait disturbance, Abnormal pyramidal sign, Megalence... ORPHA:58
Fatal Familial Insomnia
Ataxia, Myoclonus, Weight loss, Neuronal loss in central nervous system OMIM:600072
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
X-Linked Creatine Transporter Deficiency
Dystonia, Chorea, Hypertonia, Ataxia, Cachexia, Hyperactivity, Microcephaly, Athetosis ORPHA:52503
Rett Syndrome
Dystonia, Gait ataxia, Truncal ataxia, Cerebral cortical atrophy, Gait apraxia, Cachexia, Seconda... OMIM:312750
Osteopetrosis, Autosomal Recessive 5
Cerebral atrophy, Spastic tetraplegia, Clonus, Microcephaly, Hydrocephalus OMIM:259720
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus OMIM:273730
Oromandibular Dystonia
Hyperkinetic movements, Blepharospasm, Weight loss, Lingual dystonia, Laryngeal dystonia, Tortico... ORPHA:93958
Familial Lambdoid Synostosis
Hypertonia, Hydrocephalus ORPHA:3267
Hereditary Late-Onset Parkinson Disease
Dystonia, Akinesia, Parkinsonism with favorable response to dopaminergic medication, Resting trem... ORPHA:411602
Neuropathy, Congenital Hypomyelinating, 3
Dystonia, Hypoplasia of the corpus callosum, Cerebellar atrophy, Cachexia, Babinski sign, Microce... OMIM:618186
47,Xyy Syndrome
Increased circulating gonadotropin level, Azoospermia, Oligospermia, Hyperactivity, Hydrocephalus... ORPHA:8
Mitochondrial Neurogastrointestinal Encephalomyopathy
Paresthesia, Abnormal cerebral white matter morphology, Weight loss, Increased CSF protein, Cache... ORPHA:298
Weiss-Kruszka Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly OMIM:618619
Allergic Bronchopulmonary Aspergillosis
Cerebral cortical atrophy, Weight loss ORPHA:1164
Mulibrey Nanism
Cachexia ORPHA:2576
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia ORPHA:157973
1Q44 Microdeletion Syndrome
Microcephaly, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus ORPHA:238769
Walker-Warburg Syndrome
Pachygyria, Agenesis of corpus callosum, Absent septum pellucidum, Ventriculomegaly, Polymicrogyr... ORPHA:899
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Choreoacanthocytosis
Hypertonia, Head titubation, Weight loss, Cerebral cortical atrophy, Progressive inability to wal... ORPHA:2388
Hydrolethalus
Hydrocephalus, Absent septum pellucidum, Arrhinencephaly, Anencephaly, Agenesis of corpus callosum ORPHA:2189
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Gorlin Syndrome
Hydrocephalus, Cerebral calcification ORPHA:377
Congenital Sialidosis Type 2
Ataxia, Myoclonus, Dysmetria, Hydrocephalus, Spasticity ORPHA:93400
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Dilation of lateral ventricles ORPHA:85290
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation, Decreased response to growth hormone stimuation test OMIM:220210
Perry Syndrome
Dystonia, Tremor, Akinesia, Weight loss, Bradykinesia, Parkinsonism, Short stepped shuffling gait... OMIM:168605
Hereditary Cryohydrocytosis With Reduced Stomatin
Spastic paraplegia, Hypertonia, Cerebral white matter hypoplasia, Ataxia, Intracerebral periventr... ORPHA:168577
Meckel Syndrome, Type 3
Hydrocephalus, Dandy-Walker malformation OMIM:607361
Whipple Disease
Abnormal pyramidal sign, Ataxia, Myoclonus, Cachexia, Hydrocephalus ORPHA:3452
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Gait ataxia, Ventriculomegaly, Megalencephaly, Cerebral cortical atrophy, Cerebellar atrophy, Thi... OMIM:617011
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Crouzon Disease
Hydrocephalus ORPHA:207
Functioning Gonadotropic Adenoma
Panhypopituitarism, Increased circulating gonadotropin level, Hydrocephalus, Oligospermia, Pituit... ORPHA:91348
Bresek Syndrome
Microcephaly, Hydrocephalus ORPHA:85284
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Paganini-Miozzo Syndrome
Dilation of lateral ventricles OMIM:301025
Muenke Syndrome
Hydrocephalus ORPHA:53271
Central Diabetes Insipidus
Failure to thrive, Lethargy, Weight loss ORPHA:178029
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Emanuel Syndrome
Agenesis of corpus callosum, Ventriculomegaly, Cerebral atrophy, Abnormal cerebral white matter m... ORPHA:96170
Erythrokeratodermia Variabilis
Microcephaly, Weight loss ORPHA:317
Desmosterolosis
Aplasia/Hypoplasia of the corpus callosum, Partial agenesis of the corpus callosum, Ventriculomeg... OMIM:602398
Alkuraya-Kucinskas Syndrome
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Oculomotor apraxia, Hydrocephalus, L... OMIM:617822
Myopathy, Centronuclear, X-Linked
Hydrocephalus OMIM:310400
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypoplasia of the corpus callosum, Hypertonia, Stereotypy, Cerebral palsy, Dilation of lateral ve... OMIM:618914
Diabetic Embryopathy
Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Spinal dysraphism, Hydrocephalus ORPHA:1926
Osteopetrosis, Autosomal Recessive 1
Facial paralysis, Hydrocephalus, Failure to thrive OMIM:259700
Joubert Syndrome With Oculorenal Defect
Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Ataxia ORPHA:2318
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Attention deficit hyperactivity disorder, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walke... ORPHA:459061
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Tremor, Lethargy, Abnormality of extrapyramidal motor function, Cerebral cortical atrophy, Failur... OMIM:277400
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Ataxia-Telangiectasia-Like Disorder 2
Neurodegeneration, Ataxia, Unsteady gait, Cerebellar atrophy, Microcephaly OMIM:615919
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hypoplasia of the corpus callosum, Megalencephaly, Hydrocephalus OMIM:616482
Posterior Meningocele
Upper limb spasticity, Difficulty walking, Hypertonia, Neural tube defect, Meningocele, Occipital... ORPHA:268810
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Pachygyria, Type II lissencephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicro... OMIM:614643
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Dystonia, Gait ataxia, Gait disturbance, Poor coordination, Spastic diplegia, Cerebral atrophy, A... OMIM:616878
Infantile Krabbe Disease
Hypointensity of cerebral white matter on MRI, Abnormal periventricular white matter morphology, ... ORPHA:206436
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Hypointensity of cerebral white matter on MRI, Weight loss, Cachexia, Leukoencepha... OMIM:603041
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar atrophy, Hydrocephalus, Spasticity OMIM:618590
Rhabdoid Tumor
Hemiplegia, Cerebral palsy, Weight loss ORPHA:69077
Amyotrophic Lateral Sclerosis
Neurodegeneration, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Spasticity ORPHA:803
Spondyloenchondrodysplasia
Abnormal periventricular white matter morphology, Chorea, Ventriculomegaly, Decreased response to... ORPHA:1855
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Adams-Oliver Syndrome
Porencephalic cyst, Hypertonia, Hemiparesis, Periventricular leukomalacia, Failure to thrive, Hyd... ORPHA:974
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Hypercalcemia, Infantile, 1
Failure to thrive, Lethargy, Weight loss OMIM:143880
Triploidy
Meningocele, Holoprosencephaly, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus ORPHA:3376
Distal Monosomy 10Q
Cavum septum pellucidum, Poor fine motor coordination, Oculomotor apraxia, Ataxia, Unsteady gait,... ORPHA:96148
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Agenesis of corpus callosum, Hydrocephalus ORPHA:77298
Graves Disease, Susceptibility To, 1
Weight loss, Hyperactivity OMIM:275000
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Absent septum pellucidum, Ventriculomegaly, Oculomotor apraxia, Dilation of later... ORPHA:397715
Meckel Syndrome, Type 6
Hydrocephalus, Anencephaly OMIM:612284
Parkinson Disease 4, Autosomal Dominant
Parkinsonism, Lewy bodies, Weight loss OMIM:605543
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Gait disturbance, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus ORPHA:1812
Gracile Bone Dysplasia
Hydrocephalus, Failure to thrive OMIM:602361
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Encephalocraniocutaneous Lipomatosis
Porencephalic cyst, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cortical dysp... OMIM:613001
Popov-Chang syndrome
Hydrocephalus, Failure to thrive OMIM:618428
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Acquired Aneurysmal Subarachnoid Hemorrhage
Increased CSF lactate, Hyperglycorrhachia, Hydrocephalus, Hypopituitarism ORPHA:90065
Gm1 Gangliosidosis
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abnormal cerebr... ORPHA:354
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Classic Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:391
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilation of lateral ventricles, Dysplastic corpus callosum, Hyperintensity of cerebral white matt... ORPHA:544488
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Trisomy 1Q
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus ORPHA:261344
Fg Syndrome Type 1
Slender build, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Small pituitary gland... ORPHA:93932
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Pachygyria, Type II lissencephaly, Agenesis of corpus callosum, Holoprosencephaly, Exaggerated st... OMIM:253800
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Holocarboxylase Synthetase Deficiency
Lethargy, Ataxia, Weight loss ORPHA:79242
Hyperphosphatasia With Mental Retardation Syndrome 1
Cerebral cortical atrophy, Athetosis, Hydrocephalus OMIM:239300
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Cerebral atrophy, Communicating hydrocephalus, Ataxia OMIM:616084
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Cavum septum pellucidum, Abnormal cerebral white matter morphology, Ataxia, Abnormal corpus callo... ORPHA:457279
Liposarcoma
Paresthesia, Weight loss ORPHA:69078
Neonatal Lupus Erythematosus
Abnormal cerebral white matter morphology, Hydrocephalus, Basal ganglia calcification ORPHA:398124
Mucopolysaccharidosis, Type Vii
Neurodegeneration, Hydrocephalus OMIM:253220
Plasminogen Deficiency, Type I
Hydrocephalus, Dandy-Walker malformation OMIM:217090
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Lowry-Maclean Syndrome
Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Hemiparesis, Hydrocephalus ORPHA:2409
Mucopolysaccharidosis, Type Ii
Neurodegeneration, Hydrocephalus OMIM:309900
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Lethargy, Poor fine motor coordination, Atrophy of the spinal cord, Cerebral atrophy, Ataxia, Fai... ORPHA:79282
Axial Mesodermal Dysplasia Spectrum
Cerebral cortical atrophy, Hydrocephalus ORPHA:1834
Thanatophoric Dysplasia Type 1
Ventriculomegaly, Hydrocephalus ORPHA:1860
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Hypertonia, Cachexia ORPHA:1389
Pelvis-Shoulder Dysplasia
Spina bifida, Hydranencephaly, Waddling gait, Hydrocephalus ORPHA:2839
3C Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:7
6Q Terminal Deletion Syndrome
Gait ataxia, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Polymi... ORPHA:75857
Fanconi Anemia, Complementation Group B
Hypoplasia of the corpus callosum, Ventriculomegaly, Hydrocephalus OMIM:300514
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Mast Cell Sarcoma
Weight loss ORPHA:66661
Thymic Carcinoma
Diaphragmatic paralysis, Weight loss ORPHA:99868
Craniopharyngioma
Abnormal hypothalamus morphology, Enlarged pituitary gland, Pituitary hypothyroidism, Hypopituita... ORPHA:54595
Genitopalatocardiac Syndrome
Microcephaly, Hydrocephalus ORPHA:2075
Czeizel-Losonci Syndrome
Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta ORPHA:2437
Sturge-Weber Syndrome
Cerebral cortical atrophy, Hydrocephalus, Attention deficit hyperactivity disorder, Cerebral calc... ORPHA:3205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Pachygyria, Type II lissencephaly, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, H... OMIM:613150
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Abnormal caudate nucleus morphology, Choroid plexus cyst, Primary microcephaly, Periventricular l... ORPHA:293725
Wilson Disease
Clumsiness, Difficulty walking, Weight loss, Increased body weight, Failure to thrive ORPHA:905
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Slender build, Diffuse white matter abnormalities, Gait ataxia, Difficulty walking, Ventriculomeg... ORPHA:457359
Endocrine-Cerebroosteodysplasia
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Ventriculomegaly, Hydrocephalus OMIM:612651
Follicular Lymphoma
Weight loss ORPHA:545
Mosaic Variegated Aneuploidy Syndrome 1
Hypodysplasia of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly, Small for ge... OMIM:257300
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss, Periodic paralysis OMIM:613239
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Agenesis of corpus callosum, Ventriculomegaly, Intracerebral periventricular calcific... ORPHA:228308
Pycnodysostosis
Hydrocephalus ORPHA:763
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Periodic paralysis OMIM:188580
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Non-Functioning Paraganglioma
Tremor, Vocal cord paralysis, Weight loss ORPHA:94080
Hirschsprung Disease
Weight loss, Failure to thrive in infancy ORPHA:388
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Achondroplasia
Hydrocephalus, Obesity ORPHA:15
Fanconi Anemia, Complementation Group L
Hydrocephalus OMIM:614083
Mirage Syndrome
Paraplegia, Hydrocephalus, Decreased body weight OMIM:617053
Pleural Mesothelioma
Weight loss ORPHA:50251
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Multiple Sulfatase Deficiency
Microcephaly, Hydrocephalus ORPHA:585
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss ORPHA:1842
Basel-Vanagaite-Smirin-Yosef Syndrome
Inability to walk, Cavum septum pellucidum, Difficulty walking, Hypoplasia of the corpus callosum... ORPHA:464738
Hurler Syndrome
Neurodegeneration, Hydrocephalus OMIM:607014
Eosinophilic Fasciitis
Paresthesia, Weight loss ORPHA:3165
Beare-Stevenson Cutis Gyrata Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:123790
Monosomy 9Q22.3
Ventriculomegaly, Calcification of falx cerebri, Hyperactivity, Large for gestational age, Hydroc... ORPHA:77301
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Focal Myositis
Weight loss ORPHA:48918
Carnitine Palmitoyltransferase Ii Deficiency
Pachygyria, Agenesis of corpus callosum, Abnormality of the basal ganglia, Polymicrogyria, Cerebr... ORPHA:157
Tetrasomy 5P
Lipoma of corpus callosum, Hydrocephalus, Failure to thrive ORPHA:3309
Mcdonough Syndrome
Cachexia ORPHA:2471
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Khan-Khan-Katsanis Syndrome
Microcephaly, Hypertonia, Colpocephaly, Failure to thrive OMIM:618460
Trisomy 17P
Microcephaly, Hypertonia, Hydrocephalus ORPHA:261290
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Ataxia, Myoclonus, Weight loss OMIM:256700
16Q24.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Colpocephaly ORPHA:261250
Pituitary Deficiency Due To Rathke Cleft Cysts
Panhypopituitarism, Hydrocephalus, Anterior hypopituitarism, Enlarged pituitary gland, Pituitary ... ORPHA:91350
Marburg Hemorrhagic Fever
Lethargy, Weight loss ORPHA:99826
Multiple System Atrophy 1, Susceptibility To
Tremor, Neurodegeneration, Ataxia, Bradykinesia, Parkinsonism, Babinski sign, Rigidity OMIM:146500
Meningioma
Abnormal central motor function, Focal T2 hypointense thalamic lesion, Difficulty walking, Enlarg... ORPHA:2495
Holoprosencephaly 7
Semilobar holoprosencephaly, Panhypopituitarism, Agenesis of corpus callosum, Fusion of the left ... OMIM:610828
Cardiofaciocutaneous Syndrome 1
Aplasia/Hypoplasia of the corpus callosum, Hypertonia, Oculomotor apraxia, Cerebral cortical atro... OMIM:115150
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Hydrocephalus, Agenesis of corpus callosum ORPHA:3301
Pseudotrisomy 13 Syndrome
Agenesis of corpus callosum, Holoprosencephaly, Polymicrogyria, Microcephaly, Hydrocephalus OMIM:264480
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spastic paraplegia, Azoospermia, Limb ataxia, Ventriculomegaly, Hypertonia, Oculomotor apraxia, H... ORPHA:2072
Pfapa Syndrome
Weight loss ORPHA:42642
Monosomy 18Q
Slender build, Diffuse white matter abnormalities, Poor coordination, Secondary growth hormone de... ORPHA:1600
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus ORPHA:2969
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Cachexia, Ataxia ORPHA:42
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Mucopolysaccharidosis Type 3
Vocal cord paresis, Ventriculomegaly, Hypertonia, Gait disturbance, Abnormal pyramidal sign, Atax... ORPHA:581
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Hypoplasia of the corpus callosum, Ventriculomegaly, Hyperactivity, Agenesis of co... ORPHA:457284
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Hydrocephalus, Absent septum pellucidum, Microcephaly, Agenesis of corpus callosum OMIM:309801
7Q11.23 Microduplication Syndrome
Ventriculomegaly, Unsteady gait, Dysmetria, Hyperactivity, Stereotypy, Simplified gyral pattern, ... ORPHA:96121
Iniencephaly
Spina bifida, Holoprosencephaly, Spinal dysraphism, Anencephaly, Lissencephaly, Myelomeningocele,... ORPHA:63259
Ciliary Dyskinesia, Primary, 1
Abnormal respiratory motile cilium morphology, Communicating hydrocephalus OMIM:244400
Alobar Holoprosencephaly
Inability to walk, Oromotor apraxia, Panhypopituitarism, Lethargy, Abnormal central motor functio... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Inability to walk, Oromotor apraxia, Panhypopituitarism, Lethargy, Abnormal central motor functio... ORPHA:93926
Lobar Holoprosencephaly
Inability to walk, Oromotor apraxia, Panhypopituitarism, Lethargy, Abnormal central motor functio... ORPHA:93924
Semilobar Holoprosencephaly
Inability to walk, Oromotor apraxia, Panhypopituitarism, Lethargy, Abnormal central motor functio... ORPHA:220386
Renpenning Syndrome
Microcephaly, Cachexia ORPHA:3242
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Apert Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Absent septum pellucidum ORPHA:87
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Pachygyria, Type II lissencephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum... OMIM:236670
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Campomelic Dysplasia
Hydrocephalus, Failure to thrive OMIM:114290
Apert Syndrome
Agenesis of corpus callosum, Absent septum pellucidum, Ventriculomegaly, Megalencephaly, Abnormal... OMIM:101200
Distal Tetrasomy 15Q
Large for gestational age, Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Rift Valley Fever
Lethargy, Weight loss ORPHA:319251
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hypoplasia of the corpus callosum, Spastic tetraplegia, Hyperesthesia, Cachexia, Severe failure t... ORPHA:371364
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis ORPHA:93259
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Familial Colorectal Cancer Type X
Paresthesia, Gait disturbance, Hypertonia, Abnormal pyramidal sign, Weight loss, Hemiplegia/hemip... ORPHA:440437
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Cachexia ORPHA:2774
Acrodysostosis 1 With Or Without Hormone Resistance
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Small for gesta... OMIM:101800
Primary Ciliary Dyskinesia
Ventriculomegaly, Hydrocephalus ORPHA:244
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus ORPHA:2378
Lynch Syndrome
Paresthesia, Gait disturbance, Hypertonia, Abnormal pyramidal sign, Weight loss, Hemiplegia/hemip... ORPHA:144
1Q21.1 Microdeletion Syndrome
Hydrocephalus, Failure to thrive, Microcephaly, Agenesis of corpus callosum, Attention deficit hy... ORPHA:250989
Chromosome 6Pter-P24 Deletion Syndrome
Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation OMIM:612582
Jacobsen Syndrome
Holoprosencephaly, Failure to thrive, Microcephaly, Hydrocephalus, Spasticity OMIM:147791
Mend Syndrome
Hypoplasia of the corpus callosum, Limb hypertonia, Failure to thrive, Hyperactivity, Hydrocephal... ORPHA:401973
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus OMIM:224400
Oculopharyngodistal Myopathy 1
Tremor, Difficulty walking, Abnormal cerebral white matter morphology, Ataxia, Weight loss, Brain... OMIM:164310
Joubert Syndrome With Hepatic Defect
Tremor, Aplasia/Hypoplasia of the corpus callosum, Gait disturbance, Oculomotor apraxia, Ataxia, ... ORPHA:1454
Immunodeficiency 27A
Weight loss OMIM:209950
Takayasu Arteritis
Weight loss ORPHA:3287
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemiplegia, Porencephalic cyst, Tetraparesis, Hemiparesis, Facial paralysis, Cerebellar atrophy, ... OMIM:175780
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Holoprosencephaly
Panhypopituitarism, Dystonia, Aplasia/Hypoplasia of the corpus callosum, Anterior hypopituitarism... ORPHA:2162
Osteosarcoma
Weight loss ORPHA:668
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polymicrogyria, Hydrocephalus, Anencephaly OMIM:616546
Anaplastic Thyroid Carcinoma
Vocal cord paralysis, Weight loss ORPHA:142
Dyssegmental Dysplasia, Silverman-Handmaker Type
Microcephaly, Hydrocephalus ORPHA:1865
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Pentalogy Of Cantrell
Hydrocephalus, Anencephaly ORPHA:1335
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly, Septo-optic d... OMIM:301043
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Fanconi Anemia, Complementation Group D2
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Small for gestational age, Microc... OMIM:227646
African Trypanosomiasis
Tremor, Paresthesia, Akinesia, Difficulty walking, Ventriculomegaly, Gait disturbance, Abnormal c... ORPHA:3385
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hand tremor, Small for gestational age, Weight loss, Hyperactivity ORPHA:424
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hydrocephalus, Asymmetric ventricles OMIM:616914
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism