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Gene: Bicd2 MGI:1924145

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

BICD cargo adaptor 2

Synonyms:

0610027D24Rik, 1110005D12Rik

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 Bicd2 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 Bicd2 (3 diseases)
Human diseases predicted to be associated with Bicd2 (970 diseases)

The table below shows human diseases associated to Bicd2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Extra-axi...	OMIM:618291
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Waddling gait, Broad-based gait, Steppage gait, Tip-toe gait	OMIM:615290
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Difficulty walking	ORPHA:363454

The table below shows human diseases predicted to be associated to Bicd2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter h...	OMIM:604213
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus, Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebellar hypoplasia, Ce...	ORPHA:2703
Lissencephaly 3	Cerebellar vermis hypoplasia, Ataxia, Periventricular laminar heterotopia, Agyria, Gray matter he...	OMIM:611603
Lissencephaly 4	Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus ...	OMIM:614019
Lissencephaly 1	Subcortical band heterotopia, Gray matter heterotopia, Hypoplasia of the brainstem, Lissencephaly...	OMIM:607432
Microlissencephaly	Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Simplified gyral patter...	ORPHA:1083
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Dysplastic corpus callosum, Inability to walk...	OMIM:618276
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Cerebellar atrophy, Abnormal lateral ventricle morphology, Gait ataxia, Gait imbalance, Cerebella...	ORPHA:488635
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Partial agenesis of the corpus callosum, Simplified gyral pattern, Hypoplasia of t...	OMIM:619302
Holoprosencephaly 14	Cerebellar atrophy, Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Periventricu...	OMIM:619895
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Hypoplasia of the pons, Hypoplasia of the brainstem, Lissencephaly, Cerebellar hypoplasia, Perive...	OMIM:618677
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Ataxia, Hand tremor, Lateral ventricle dilatation, Neurodegeneration, Dystonia	OMIM:615889
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, H...	OMIM:613153
Juvenile Huntington Disease	Cerebellar atrophy, Broad-based gait, Ataxia, Chorea, Cerebellar vermis atrophy, Gait ataxia, Wei...	ORPHA:248111
Autosomal Recessive Spastic Paraplegia Type 66	Impaired vibration sensation in the lower limbs, Colpocephaly, Cerebellar hypoplasia, Difficulty ...	ORPHA:401815
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:2182
Pettigrew Syndrome	Cerebellar vermis hypoplasia, Aqueductal stenosis, Hydrocephalus, Gait ataxia, Choreoathetosis, D...	OMIM:304340
Dandy-Walker Syndrome	Dilated fourth ventricle, Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Hy...	OMIM:220200
2,4-Dienoyl-Coa Reductase Deficiency	Cerebellar atrophy, Ataxia, Hydrocephalus, Cerebral atrophy, Increased CSF lactate, Choreoathetos...	OMIM:616034
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Impaired vibration sensation in the l...	OMIM:610245
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum	OMIM:307000
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:1538
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Hypoplasia of the pons, Perisylvian polymicrogyria, Abnormal brainstem morpho...	ORPHA:300573
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly	ORPHA:171703
Gómez-López-Hernández Syndrome	Cerebellar vermis hypoplasia, Ataxia, Impaired pain sensation, Abnormal cerebellum morphology, Hy...	ORPHA:1532
Pontocerebellar Hypoplasia, Type 1A	Ataxia, Hypoplasia of the pons, Limb ataxia, Hand tremor, Hypoplasia of the ventral pons, Degener...	OMIM:607596
Alg13-Cdg	Abnormal lateral ventricle morphology, Global brain atrophy, Decreased body weight	ORPHA:324422
Pontocerebellar Hypoplasia, Type 12	Cerebral atrophy, Hypoplasia of the brainstem, Cerebellar hypoplasia, Lateral ventricle dilatation	OMIM:618266
Congenital Muscular Dystrophy Without Intellectual Disability	Cerebellar atrophy, Gray matter heterotopia, Tip-toe gait, Difficulty walking, Pachygyria, Ventri...	ORPHA:370980
Lissencephaly, X-Linked, 1	Ataxia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria	OMIM:300067
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus ca...	ORPHA:1528
Fried Syndrome	Abnormal cerebellum morphology, Hydrocephalus, Gait disturbance	ORPHA:85335
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Agenesis of corpus callosum	ORPHA:1496
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Cerebellar vermis hypoplasia, Periventricular heterotopia, Inability to walk, Unsteady gait, Simp...	OMIM:618273
Alexander Disease	Ataxia, Aqueductal stenosis, Tremor, Hydrocephalus, Chorea, Gait disturbance, Failure to thrive, ...	ORPHA:58
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Ataxia, Inability to walk, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Pac...	OMIM:618174
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation	OMIM:123155
Pineocytoma	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking	ORPHA:251912
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ataxia, Abnormality of neuronal migration, Ventriculomegaly	OMIM:618709
Corpus Callosum, Partial Agenesis Of, X-Linked	Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hypoplasia, Inferior cerebella...	OMIM:304100
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Hypoplasi...	ORPHA:352682
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Periventricular heterotopia, Hypoplasia of the pons, Partial agenesis of the ...	OMIM:616171
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Cerebellar atrophy, Broad-based gait, Simplified gyral pattern, Dysmetria, Gait ataxia, Hypoplasi...	OMIM:224050
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Cachexia, Hydrocephalus, Failure to thrive	ORPHA:363717
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hypoplasia of the pons, Aqueductal stenosis, Partial agenesis of the corpus callosum, Hydrocephal...	OMIM:619512
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio...	OMIM:600348
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ataxia, Small for gestational age, Inability to walk, Partial agenesis of the corpus callosum, Ce...	ORPHA:79243
Chiari Malformation Type Ii	Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Cervical myelopathy, Gray ma...	OMIM:207950
Microphthalmia-Brain Atrophy Syndrome	Diffuse cerebral atrophy, Corpus callosum atrophy, Lateral ventricle dilatation, Abnormal pons mo...	ORPHA:77299
Lissencephaly 6 With Microcephaly	Cerebellar atrophy, Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplif...	OMIM:616212
Masa Syndrome	Hydrocephalus, Agenesis of corpus callosum, Shuffling gait, Ventriculomegaly	OMIM:303350
L1 Syndrome	Aqueductal stenosis, Hydrocephalus, Gait disturbance	ORPHA:275543
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Unsteady gait, Mid...	OMIM:617542
Pyruvate Dehydrogenase E1-Beta Deficiency	Ataxia, Periventricular heterotopia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Decrease...	ORPHA:255138
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Cachexia, Tremor, Chorea, Dysmetria, Gait ataxia, Dystonia	OMIM:618093
Christianson Syndrome	Cerebellar atrophy, Dystonia, Cachexia, Gait ataxia, Truncal ataxia, Aplasia/Hypoplasia of the ce...	ORPHA:85278
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Tremor, Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly	OMIM:611808
Lissencephaly 5	Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Subcortical band heterotopi...	OMIM:615191
Neurooculorenal Syndrome	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Aqueductal stenosis, Partial agenesis of th...	OMIM:620305
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly, Type II lissencephaly	OMIM:614830
Alexander Disease	Ataxia, Hydrocephalus, Dysmetria, Abnormal dentate nucleus morphology, Increased CSF protein conc...	OMIM:203450
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus, Chiari malformation	ORPHA:93259
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Polymicrogyria, Ventriculomegaly	OMIM:615938
Sub-Cortical Nodular Heterotopia	Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig...	ORPHA:101029
Intellectual Developmental Disorder, Autosomal Recessive 68	Cerebellar atrophy, Hydrocephalus, Small for gestational age	OMIM:618302
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Abnor...	OMIM:300957
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Inability to walk, Hydrocephalus, Hypoplasia of the brainstem, Cere...	OMIM:613155
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Enlarged sylvian cistern, Gray matter heterotopia, Pachygyria, Agyria, Ventriculomegaly	ORPHA:1084
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Polymicrogyria, Ventriculomegaly	OMIM:615937
Huntington Disease-Like 2	Caudate atrophy, Chorea, Weight loss, Gait disturbance, Dystonia, Cerebral cortical atrophy	ORPHA:98934
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Type II ...	ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Cerebel...	OMIM:615181
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, Hydranencephaly, Br...	OMIM:617967
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Ataxia	ORPHA:99966
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Akinesia, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hy...	OMIM:225790
Hemiparkinsonism-Hemiatrophy Syndrome	Dystonia, Tremor, Lateral ventricle dilatation, Brain atrophy, Difficulty walking, Cerebral corti...	ORPHA:306669
Aicardi-Goutieres Syndrome 4	Cerebellar atrophy, Hydrocephalus, Cerebral atrophy, CSF lymphocytic pleiocytosis, Dystonia, Vent...	OMIM:610333
Huntington Disease-Like 1	Cerebellar atrophy, Chorea, Dysmetria, Gait ataxia, Weight loss, Gait disturbance, Cerebral corti...	ORPHA:157941
Adams-Oliver Syndrome 2	Hydrocephalus, Cerebral atrophy, Retrocerebellar cyst, Lateral ventricle dilatation, Cerebellar h...	OMIM:614219
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Cerebellar malformation, Ventricul...	ORPHA:324416
Cach Syndrome	Cerebellar atrophy, Truncal ataxia, Dysmetria, Limb ataxia, Cerebral atrophy, Abnormal pons morph...	ORPHA:135
Congenital Hydrocephalus	Abnormal cortical gyration, Hydrocephalus, Colpocephaly, Lissencephaly, Ventriculomegaly	ORPHA:2185
Pfeiffer Syndrome Type 3	Aqueductal stenosis, Chiari malformation	ORPHA:93260
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Hypoplasia ...	ORPHA:101070
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Stillbirth	OMIM:276950
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Acalvaria	Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Aplasia/Hypopl...	ORPHA:945
Central Neurocytoma	Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Paresthesia	ORPHA:73256
Giant Axonal Neuropathy 1, Autosomal Recessive	Abnormal cerebellum morphology, Lateral ventricle dilatation, Steppage gait, Distal sensory impai...	OMIM:256850
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Frontal polymicrogyria, Cerebellar vermis hypoplasia, Ataxia, L...	OMIM:608629
Joubert Syndrome 30	Cerebellar atrophy, Dandy-Walker malformation, Gray matter heterotopia, Molar tooth sign on MRI, ...	OMIM:617622
Pontocerebellar Hypoplasia, Type 13	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Inability to walk, Gait ataxia, Lateral ven...	OMIM:618606
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Colpocephaly, Pachygyria	OMIM:614870
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Tremor, Hydrocephalus, Simplified gyral pattern, Broad-based gait	OMIM:619470
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly, Polymicrogyria, Cerebellar hypoplasia	OMIM:618731
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cerebellar vermis hypoplasia, Failure to thrive in infancy, Simplified gyral pattern, Lateral ven...	ORPHA:284417
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Joubert Syndrome With Renal Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Mol...	ORPHA:220497
Coach Syndrome 2	Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:619111
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Inability to walk, Lateral ventricle dilatation, Ventriculomegaly	OMIM:613443
Intellectual Developmental Disorder, Autosomal Dominant 56	Broad-based gait, Ataxia, Inability to walk, Pontocerebellar atrophy, Lateral ventricle dilatatio...	OMIM:617854
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Galloway-Mowat Syndrome	Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration	ORPHA:2065
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Hypoplasia of the brainstem, Lissencephaly, Cerebellar hypoplasia, Agenesis of cor...	OMIM:615249
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Periventricular heterotopia, Hydrocephalus, Chiari type I malformation, Neurodegeneration...	OMIM:618476
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Lateral vent...	OMIM:617751
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Failure to thrive, Gait disturbance	ORPHA:26
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephal...	ORPHA:89844
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired pain sensati...	ORPHA:99947
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Hypoplasia of the brainstem, Colpocephaly, Polymicrogyria, Agenesis o...	ORPHA:250972
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Hy...	OMIM:220220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle...	OMIM:613154
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Microcephaly-Micromelia Syndrome	Aqueductal stenosis, Simplified gyral pattern, Neonatal death	OMIM:251230
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot...	OMIM:615960
Combined Oxidative Phosphorylation Defect Type 39	Corpus callosum atrophy, Abnormal cerebellum morphology, Leg dystonia, Cerebral atrophy, Increase...	ORPHA:565624
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Mol...	ORPHA:220493
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Extra-axi...	OMIM:618291
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Ventriculomegaly, Subcortical heterotopia, Agyria, Type II lissencephaly, Partial ...	OMIM:614643
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:615411
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Abnormal dentate nucleus m...	OMIM:619517
Craniosynostosis 6	Cerebellar atrophy, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callos...	OMIM:616602
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cerebellar dysplasia, Encephalocele, Type II lissencephaly, Partial absence of cerebellar vermis,...	OMIM:613150
Craniofacial Dyssynostosis With Short Stature	Chiari type I malformation, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:218350
Martsolf Syndrome 2	Lateral ventricle dilatation, Brain atrophy, Decreased body weight	OMIM:619420
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Chiari malformation, Frontal encephalocele	ORPHA:261102
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H...	ORPHA:370022
Walker-Warburg Syndrome	Ventriculomegaly, Abnormal cortical gyration, Hydrocephalus, Polymicrogyria, Abnormality of neuro...	ORPHA:899
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Small for gestational age, Lateral ventricle dilatation, Cerebellar hyp...	ORPHA:3078
Williams-Beuren Region Duplication Syndrome	Cerebellar vermis hypoplasia, Small for gestational age, Hydrocephalus, Gait disturbance, Failure...	OMIM:609757
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Exaggerated startle response, Agyria, Hydrocephalus, Hypoplasia of the brainstem, ...	OMIM:253800
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation, Cerebral cortical atrophy, Simplified gyral pattern, Dystonia	OMIM:617668
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Hypoplasia of the pons, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus ca...	OMIM:618736
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Dysme...	ORPHA:572798
Glutathionuria	Tremor, Gray matter heterotopia, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor	OMIM:231950
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Dysplastic corpus callosum, Lissencephaly, Decreased body weight, Polymicrogy...	OMIM:614833
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Aqueductal stenosis	ORPHA:3035
Hemangioblastoma	Dysesthesia, Cerebellar edema, Hydrocephalus, Cerebellar hemangioblastoma	ORPHA:252054
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Cerebellar hypoplasia, Failure to thrive	OMIM:306955
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive	OMIM:129850
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Gait disturbance, Holoprosencephaly, Aplasia/Hypoplasia of the cerebe...	ORPHA:588
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Torticollis, Cerebellar vermis hypoplasia, Inability to walk, Partial agenesis of...	ORPHA:300570
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation, Polymicrogyria	OMIM:300982
Pfeiffer Syndrome Type 1	Aqueductal stenosis	ORPHA:93258
Developmental And Epileptic Encephalopathy 36	Hydrocephalus, Cerebral atrophy	OMIM:300884
Acrofacial Dysostosis, Rodríguez Type	Aqueductal stenosis	ORPHA:1788
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:2512
Symmetrical Thalamic Calcifications	Failure to thrive, Ataxia, Abnormality of neuronal migration	ORPHA:1314
1Q21.1 Microduplication Syndrome	Hydrocephalus, Failure to thrive	ORPHA:250994
Juvenile Amyotrophic Lateral Sclerosis	Axial dystonia, Amyotrophic lateral sclerosis, Dystonia, Ataxia, Cachexia, Head titubation, Inabi...	ORPHA:300605
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Abn...	ORPHA:163961
Pulmonary Blastoma	Weight loss	ORPHA:64741
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Orbital encephalocele, Agenesis of corpus callosum, Dandy-Walker malform...	OMIM:164180
Slc35A2-Cdg	Cerebellar atrophy, Failure to thrive in infancy, Abnormal midbrain morphology, Inability to walk...	ORPHA:356961
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration, Ventriculomegaly	ORPHA:1980
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Chiari malformation, Aplasia/Hypoplasia of the cerebellum, Failure to thrive, Poly...	ORPHA:60040
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Ventriculomegaly	ORPHA:2772
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Diffuse cerebral atrophy, Scissor gait, Lateral ventricle dilatation, Dilated thi...	ORPHA:363654
Joubert Syndrome 23	Dysplastic corpus callosum, Cerebellar dysplasia	OMIM:616490
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Cerebral atrophy, Lateral ventricle dilatation, Gait disturbance, Abnormal upper...	OMIM:221770
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hydrocephalus, Chiari malformation, Obesity, Cerebral atrophy	ORPHA:171839
Pallister-Hall-Like Syndrome	Chiari type I malformation, Occipital encephalocele, Hydrocephalus, Hypothalamic hamartoma	OMIM:241800
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Failure to thrive, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heter...	OMIM:604317
Hogue-Janssen Syndrome 2	Inability to walk, Hydrocephalus, Gait ataxia, Agenesis of corpus callosum, Ventriculomegaly	OMIM:616362
Subependymal Nodular Heterotopia	Occipital encephalocele, Partial agenesis of the corpus callosum, Meningocele, Myelomeningocele, ...	ORPHA:101030
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Abnormality of neuron...	ORPHA:475
Leukoencephalopathy With Vanishing White Matter 5	Loss of ambulation, Lateral ventricle dilatation, Dilated third ventricle	OMIM:620315
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria, Ven...	OMIM:617397
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Ataxia, Periventricular heterotopia, Hydrocephalus, Colpocephaly, Failure to thrive, Ventriculome...	OMIM:619833
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Ventriculomegaly, Agyria, Type II lissencephaly, Meningoencephalocele, H...	OMIM:236670
Glutaric Acidemia I	Hydrocephalus, Opisthotonus, Choreoathetosis, Lateral ventricle dilatation, Dystonia, Failure to ...	OMIM:231670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Hypoplasia of the brainstem, Pachygyria, Cerebellar hypoplasia, Abnormality of neuronal migration	OMIM:608840
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Hydroceph...	OMIM:617281
Cog5-Cdg	Cerebellar atrophy, Diffuse cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Later...	ORPHA:263487
Lhermitte-Duclos Disease	Hydrocephalus, Polymicrogyria, Enlarged cerebellum, Ataxia	ORPHA:65285
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Cerebral atrophy, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum, Ventr...	OMIM:620156
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Gait ataxia, Weight loss, Increased CSF lactate, Failure to thrive	OMIM:612075
Pontocerebellar Hypoplasia, Type 7	Ataxia, Hypoplasia of the pons, Hydrocephalus, Cerebral atrophy, Opisthotonus, Choreoathetosis, H...	OMIM:614969
Vacterl With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Spina bifida	ORPHA:3412
6Q Terminal Deletion Syndrome	Periventricular heterotopia, Obesity, Dysmetria, Gait ataxia, Abnormality of neuronal migration, ...	ORPHA:75857
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Multiple Sulfatase Deficiency	Cerebellar atrophy, Ataxia, Hydrocephalus, Cerebral atrophy, Increased CSF protein concentration,...	OMIM:272200
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618577
Gerstmann-Straussler Disease	Cerebellar atrophy, Tremor, Limb ataxia, Weight loss, Gait ataxia, Truncal ataxia	OMIM:137440
Huntington Disease	Caudate atrophy, Inability to walk, Chorea, Cerebral atrophy, Weight loss, Gait disturbance, Gait...	ORPHA:399
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Congenital Disorder Of Glycosylation, Type Iil	Cerebellar atrophy, Abnormal cortical gyration, Hydrocephalus, Cerebral atrophy, Failure to thriv...	OMIM:614576
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosu...	ORPHA:1812
Charge Syndrome	Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly, Aqueductal stenosis, Dandy-Walker malfor...	ORPHA:138
Diencephalic Syndrome	Hydrocephalus, Cachexia, Decreased body weight	ORPHA:1672
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Hydrocephalus, Polymicrogyria	OMIM:154400
Papillary Tumor Of The Pineal Region	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking	ORPHA:251915
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Hydrocephalus, Gray matter heterotopia, Hypoplasia of the brainstem, Lissenceph...	OMIM:617822
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Gray matter heterotopia, H...	OMIM:619775
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Ataxia, Brainstem...	OMIM:608091
B4Galt1-Cdg	Hydrocephalus, Small for gestational age, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:79332
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Failure to thrive in infancy, Dysplastic corpus callosum, Lateral ventricle dilatation, Gait dist...	ORPHA:488627
Intellectual Developmental Disorder, Autosomal Dominant 70	Hypoplasia of the pons, Chiari type I malformation, Hydrocephalus, Failure to thrive	OMIM:620157
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Co...	OMIM:615219
Huntington Disease-Like 2	Chorea, Weight loss, Dystonia, Cerebral cortical atrophy, Action tremor	OMIM:606438
Leber Congenital Amaurosis	Encephalocele, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:65
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Chiari malformation	ORPHA:93262
Vici Syndrome	Hypoplasia of the pons, Gray matter heterotopia, Cerebellar hypoplasia, Agenesis of corpus callos...	ORPHA:1493
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:459061
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Fanconi Anemia, Complementation Group I	Colpocephaly, Chiari malformation, Agenesis of corpus callosum, Decreased body weight	OMIM:609053
Tuberculosis	Weight loss	ORPHA:3389
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Neurocutaneous Melanocytosis	Meningocele, Abnormality of neuronal migration, Chiari malformation, Aplasia/Hypoplasia of the ce...	ORPHA:2481
Developmental And Epileptic Encephalopathy 31B	Opisthotonus, Colpocephaly, Brain atrophy, Failure to thrive, Agenesis of corpus callosum, Ventri...	OMIM:620352
Joubert Syndrome With Oculorenal Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Abnormality of neuronal migra...	ORPHA:2318
Hemimegalencephaly	Abnormal neuron morphology, Gray matter heterotopia, Pachygyria, Polymicrogyria, Ventriculomegaly	ORPHA:99802
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Gait disturbance, Type II lissencephaly, Ventriculomegaly	ORPHA:272
Rhombencephalosynapsis	Fusion of the cerebellar hemispheres, Agenesis of cerebellar vermis, Ataxia, Hydrocephalus, Abnor...	ORPHA:59315
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve...	OMIM:615287
Carnitine Palmitoyltransferase Ii Deficiency	Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration, Pachygyria, Agene...	ORPHA:157
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation	OMIM:616816
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:175700
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Cerebellar vermis hypoplasia, Obesity, Ventriculomegaly	OMIM:615630
Joubert Syndrome 14	Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus...	OMIM:614424
Emanuel Syndrome	Failure to thrive, Hydrocephalus, Cerebral atrophy, Chiari malformation, Dandy-Walker malformatio...	ORPHA:96170
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Obesity, Cerebral atrophy, Lateral ventricle dilatation,...	OMIM:617296
Trisomy 1Q	Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly	ORPHA:261344
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Failure to thrive, Abnor...	ORPHA:397715
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Lissencephaly, Brain atrophy, Failure to thrive, Dandy-Walker malformation	OMIM:612938
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aqueductal stenosis, Hydrocephalus, Frontotemporal cerebral atrophy, Lateral ventricle dilatation...	OMIM:619534
Central Precocious Puberty In Male	Hydrocephalus, Hypothalamic hamartoma	ORPHA:649929
Crouzon Syndrome	Hydrocephalus, Chiari malformation, Cerebellar hypoplasia	ORPHA:207
Autosomal Recessive Spastic Paraplegia Type 11	Abnormal substantia nigra morphology, Ataxia, Overweight, Inability to walk, Atrophy of the spina...	ORPHA:2822
Idiopathic Achalasia	Weight loss	ORPHA:930
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebellar vermis hypoplasia, Hydrocephalus, Polymicrogyria, Agyria, Ventriculomegaly, Cerebellar...	OMIM:616538
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Cerebellar vermis hypoplasia, Small for gestational age, Pachygyria, Gray...	OMIM:620024
Krabbe Disease	Diffuse cerebral atrophy, Hydrocephalus, Neurodegeneration, Failure to thrive, Increased CSF prot...	OMIM:245200
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasia, Polymicrogyria, Abnormal cerebellar vermi...	ORPHA:1647
Periventricular Nodular Heterotopia 1	Gray matter heterotopia, Cerebellar hypoplasia, Abnormality of neuronal migration	OMIM:300049
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Ataxia, Cachexia, Weight loss	OMIM:613662
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Inability to walk, Lateral ventricle dilatation	OMIM:615716
Medulloblastoma	Ataxia, Cerebellar calcifications, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Inten...	ORPHA:616
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Desmosterolosis	Failure to thrive, Abnormal cortical gyration, Hydrocephalus, Abnormality of neuronal migration, ...	ORPHA:35107
Glutamine Deficiency, Congenital	Subependymal cysts, Lateral ventricle dilatation, Neonatal death, Brain atrophy, Decreased CSF gl...	OMIM:610015
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cerebellar atrophy, Small for gestational age, Pachygyria, Macrogyria, Athetosis, Colpocephaly, C...	OMIM:614866
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Cerebellar vermis hypoplasia, Ataxia, Inability to walk, Colpocephaly, Dystonia, Failure to thrive	OMIM:620083
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Abnormality...	ORPHA:1454
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Obesity, Cerebral atrophy	OMIM:616521
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration, Pachygyria, Agene...	ORPHA:228308
Neuropathy, Congenital Hypomyelinating, 3	Cerebellar atrophy, Neonatal death, Cachexia, Dystonia	OMIM:618186
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Ataxia, Dysplastic corpus callosum, Gray matter heterotopia, Agenes...	ORPHA:314679
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Failure to thrive, Overweight, Hydrocephalus, Chiari type I malformation, Lateral ventricle dilat...	OMIM:619575
Congenital Toxoplasmosis	Hydrocephalus, Failure to thrive in infancy, Ventriculomegaly	ORPHA:858
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation	OMIM:613001
Pseudotrisomy 13 Syndrome	Encephalocele, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Polymicrogyria, Agenesis ...	OMIM:264480
Infantile Sialic Acid Storage Disease	Hydrocephalus, Failure to thrive, Cerebral atrophy	OMIM:269920
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Peho Syndrome	Cerebellar atrophy, Hydrocephalus, Atrophy/Degeneration affecting the brainstem, Cerebral cortica...	ORPHA:2836
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:109120
Periventricular Nodular Heterotopia 7	Ataxia, Choroid plexus cyst, Gray matter heterotopia, Periventricular nodular heterotopia, Failur...	OMIM:617201
Malan Overgrowth Syndrome	Episodic ataxia, Hypoplasia of the brainstem, Ventriculomegaly, Lateral ventricle dilatation	ORPHA:420179
Meckel Syndrome, Type 4	Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Molar toot...	OMIM:611134
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Ataxia, Tremor, Abnormality of neuronal migration, Gait disturbance...	ORPHA:2754
Intellectual Developmental Disorder, Autosomal Dominant 65	Agenesis of corpus callosum, Noncommunicating hydrocephalus, Ataxia	OMIM:619320
Alg2-Cdg	Lateral ventricle dilatation	ORPHA:79326
47,Xyy Syndrome	Dysgenesis of the cerebellar vermis, Hydrocephalus, Abnormal brainstem morphology, Cerebellar dys...	ORPHA:8
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation	OMIM:618330
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Abnormal cerebellum morphology, Hydrocephalus, I...	ORPHA:2356
Oculocerebral Hypopigmentation Syndrome, Preus Type	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormal brainstem morphology, Ataxia	ORPHA:2720
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Lateral ventricle dilatation...	OMIM:619244
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Polymicrogyria, Ventriculomegaly	OMIM:602501
Cntnap2-Related Developmental And Epileptic Encephalopathy	Ataxia, Cerebellar vermis atrophy, Obesity, Abnormality of neuronal migration, Abnormal neuron mo...	ORPHA:163681
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Apl...	ORPHA:1908
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Congenital Disorder Of Glycosylation, Type Iig	Cerebellar atrophy, Cerebellar vermis hypoplasia, Failure to thrive in infancy, Cerebral atrophy,...	OMIM:611209
Familial Infantile Myoclonic Epilepsy	Cerebellar atrophy, Ataxia, Blepharospasm, Gait disturbance, Periventricular nodular heterotopia	ORPHA:352582
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebellar atrophy, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Periventricular hete...	ORPHA:468631
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
Stromme Syndrome	Cerebellar vermis hypoplasia, Hydrocephalus, Stillbirth, Cerebellar hypoplasia, Agenesis of corpu...	OMIM:243605
Halperin-Birk Syndrome	Inability to walk, Colpocephaly, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly...	OMIM:618651
Rabin-Pappas Syndrome	Failure to thrive in infancy, Hypoplasia of the pons, Hydrocephalus, Obesity, Chiari type I malfo...	OMIM:620155
Biemond Syndrome Type 2	Hydrocephalus, Obesity	ORPHA:141333
Nasu-Hakola Disease	Hydrocephalus, Chorea, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:2770
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Small for gestational age, Hydrocephalus, Cerebellar hypoplasia, Agenesis of co...	OMIM:257300
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive, Abnormality of neuronal migration	ORPHA:1895
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus, Small for gestational age, Gait disturbance	OMIM:613330
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Polymicrogyria	ORPHA:83473
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Oculopharyngodistal Myopathy	Loss of ambulation, Difficulty walking, Weight loss	ORPHA:98897
Dural Sinus Malformation	Somatic sensory dysfunction, Ataxia, Myelopathy, Abnormal cerebellum morphology, Hydrocephalus	ORPHA:97339
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Small for gestational age, Cerebral atrophy, Opisthotonus, Lateral ventricle dilatation, Limb dys...	OMIM:619847
Bilateral Generalized Polymicrogyria	Lateral ventricle dilatation, Oculogyric crisis, Dystonia	ORPHA:208447
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Endocrine-Cerebroosteodysplasia	Focal polymicrogyria, Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Age...	OMIM:612651
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Cerebellar atrophy, Cerebellar vermis hypoplasia, Hydrocephalus, Cerebral atrophy, Cerebellar hyp...	OMIM:618590
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Lateral ventricle dilatation, Periventricular heterotopia, Dystonia	OMIM:614105
Distal Deletion 10Q	Failure to thrive, Ataxia, Unsteady gait, Lateral ventricle dilatation, Cerebellar hypoplasia, In...	ORPHA:96148
Riboflavin Transporter Deficiency	Tremor, Ataxia, Cerebral cortical atrophy, Cachexia	ORPHA:97229
Emanuel Syndrome	Torticollis, Dandy-Walker malformation, Hydrocephalus, Cerebral atrophy, Failure to thrive, Ventr...	OMIM:609029
Diabetic Embryopathy	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spinal dysraphism	ORPHA:1926
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus, Cerebellar hypoplasia	ORPHA:163966
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus, Obesity	ORPHA:2183
3-Hydroxyisobutyric Aciduria	Failure to thrive, Abnormality of neuronal migration	OMIM:236795
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Large for gestational age, Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated thir...	ORPHA:544488
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:612582
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
3C Syndrome	Hydrocephalus, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum, Dandy-Wal...	ORPHA:7
Temple Syndrome	Hydrocephalus, Small for gestational age, Obesity	ORPHA:254516
Isaacs Syndrome	Weight loss, Distal sensory impairment	ORPHA:84142
Apert Syndrome	Hydrocephalus, Chiari malformation, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:87
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Fg Syndrome Type 1	Broad-based gait, Abnormal cerebellum morphology, Hydrocephalus, Slender build, Ventriculomegaly	ORPHA:93932
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus, Cerebral atrophy	OMIM:615599
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Neu-Laxova Syndrome	Abnormal cortical gyration, Spina bifida, Pachygyria, Polymicrogyria, Abnormality of neuronal mig...	ORPHA:2671
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Failure to thrive, Agenesis of corpus callosum	OMIM:612940
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus, Cerebral atrophy	ORPHA:397951
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation, Small for gestational age	OMIM:619278
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Ataxia, Ventriculomegaly	ORPHA:1933
Temple Syndrome	Small for gestational age, Overweight, Hydrocephalus, Obesity, Truncal obesity	OMIM:616222
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebellar atrophy, Communicating hydrocephalus, Large for gestational age, Gait ataxia, Cerebral...	OMIM:617011
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Abnormality of neuronal migration	ORPHA:2518
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618619
Plasminogen Deficiency, Type I	Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation, Ventriculomegaly	OMIM:217090
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Cerebellar atrophy, Lateral ventricle dilatation, Exaggerated startle response	OMIM:618367
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Chiari malformation, Agenesis of corpus callosum, Ventriculomegaly	OMIM:123790
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus, Gait disturbance	ORPHA:2181
Radio-Tartaglia Syndrome	Ataxia, Tremor, Obesity, Gray matter heterotopia, Gait imbalance, Agenesis of corpus callosum	OMIM:619312
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Laryngeal Neuroendocrine Tumor	Weight loss	ORPHA:100083
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Ataxia, Atrophy of the spinal cord, Hydrocephalus, Gait disturbance, Brain atrophy, Failure to th...	ORPHA:395
Fanconi Anemia, Complementation Group R	Chiari type I malformation, Hydrocephalus	OMIM:617244
Den Hoed-De Boer-Voisin Syndrome	Ataxia, Overweight, Inability to walk, Tremor, Obesity, Lateral ventricle dilatation, Decreased b...	OMIM:619229
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Classic Pantothenate Kinase-Associated Neurodegeneration	Generalized dystonia, Inability to walk, Opisthotonus, Weight loss, Tip-toe gait, Gait disturbance	ORPHA:216866
Pelizaeus-Merzbacher Disease	Ataxia, Failure to thrive in infancy, Cachexia, Choreoathetosis, Gait disturbance, Dystonia, Cere...	ORPHA:702
1Q44 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:238769
Congenital Muscular Dystrophy Due To Lmna Mutation	Gait disturbance, Cachexia	ORPHA:157973
Tetrasomy 5P	Hydrocephalus, Failure to thrive, Cerebellar hypoplasia	ORPHA:3309
Coffin-Lowry Syndrome	Abnormality of neuronal migration, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Cerebr...	ORPHA:192
Acromelic Frontonasal Dysostosis	Encephalocele, Choroid plexus cyst, Retrocerebellar cyst, Gray matter heterotopia, Periventricula...	OMIM:603671
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia, Inability to walk, Cerebral atrophy, Global brain atrophy	OMIM:616801
Aicardi-Goutieres Syndrome 9	Cerebral atrophy, Weight loss, Lateral ventricle dilatation, Dystonia, Failure to thrive	OMIM:619487
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly, Gait ataxia	OMIM:616355
Aicardi Syndrome	Cerebellar vermis hypoplasia, Spina bifida, Pachygyria, Partial agenesis of the corpus callosum, ...	OMIM:304050
Orofaciodigital Syndrome I	Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Cerebral atrophy, Gray matter hetero...	OMIM:311200
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Chiari malformation, Diffic...	ORPHA:268810
Thanatophoric Dysplasia	Gray matter heterotopia, Hydrocephalus, Ventriculomegaly	ORPHA:2655
Monosomy 18Q	Hydrocephalus, Choreoathetosis, Cerebellar hypoplasia, Failure to thrive, Slender build	ORPHA:1600
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation	OMIM:600721
Hydrolethalus	Anencephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:2189
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Hypoplasia of the brainstem, Brain atrophy, Failure to thrive, Ventriculomegaly	ORPHA:2169
Chronic Hiccup	Weight loss	ORPHA:396
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria...	ORPHA:1692
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, Molar tooth sign on MRI, Ventr...	OMIM:619479
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Dandy-Walker malformation	OMIM:220210
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Pallidal degeneration, Dystonia, Ataxia, Tremor, Chorea, Athetosis, ...	ORPHA:25
Khan-Khan-Katsanis Syndrome	Failure to thrive, Colpocephaly, Cerebellar vermis hypoplasia, Ventriculomegaly	OMIM:618460
Isolated Succinate-Coq Reductase Deficiency	Loss of ambulation, Ataxia, Weight loss	ORPHA:3208
Pfeiffer Syndrome	Hydrocephalus, Chiari malformation	OMIM:101600
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:612863
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Olivopontocerebellar hypoplasia	ORPHA:457284
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Molar toot...	OMIM:616546
Fanconi Anemia, Complementation Group B	Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly	OMIM:300514
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Chiari malformation, Holoprose...	OMIM:618820
Peripheral Primitive Neuroectodermal Tumor	Torticollis, Somatic sensory dysfunction, Abnormal superior cerebellar peduncle morphology, Weigh...	ORPHA:370348
Histiocytoid Cardiomyopathy	Cerebellar malformation, Hydrocephalus, Failure to thrive, Agenesis of corpus callosum	ORPHA:137675
Bainbridge-Ropers Syndrome	Inability to walk, Inferior cerebellar vermis hypoplasia, Failure to thrive, Lateral ventricle di...	OMIM:615485
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:77298
Flynn-Aird Syndrome	Ataxia, Cerebral cortical atrophy, Cachexia, Impaired pain sensation	ORPHA:2047
Glossopharyngeal Neuralgia	Chiari type I malformation, Dysesthesia, Weight loss	ORPHA:221098
Marden-Walker Syndrome	Hydrocephalus, Cerebellar hypoplasia, Failure to thrive, Agenesis of corpus callosum, Abnormal ce...	ORPHA:2461
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Small for gestational age, Lateral ventri...	OMIM:619869
Orofaciodigital Syndrome Xvi	Ataxia, Inability to walk, Gray matter heterotopia, Molar tooth sign on MRI, Ventriculomegaly	OMIM:617563
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation, Parietal cortical atrophy	OMIM:620075
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Bohring-Opitz Syndrome	Gray matter heterotopia, Hypoplasia of the brainstem, Failure to thrive, Agenesis of corpus callo...	OMIM:605039
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Spondylocostal Dysostosis 4, Autosomal Recessive	Chiari type II malformation, Spina bifida occulta, Myelomeningocele, Hydrocephalus	OMIM:613686
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
15Q Overgrowth Syndrome	Hydrocephalus, Agenesis of corpus callosum, Brain atrophy, Dandy-Walker malformation	ORPHA:314585
Full Nf2-Related Schwannomatosis	Somatic sensory dysfunction, Myelopathy, Abnormal cerebellum morphology, Hydrocephalus, Unsteady ...	ORPHA:637
Marshall-Smith Syndrome	Pachygyria, Hydrocephalus, Macrogyria, Cerebral atrophy, Cerebellar hypoplasia, Decreased body we...	OMIM:602535
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Mitochondrial Neurogastrointestinal Encephalomyopathy	Increased CSF protein concentration, Paresthesia, Cachexia, Weight loss	ORPHA:298
Desmosterolosis	Partial agenesis of the corpus callosum, Failure to thrive, Hydrocephalus, Ventriculomegaly	OMIM:602398
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation, Intention tremor	OMIM:619995
X-Linked Intellectual Disability, Wilson Type	Lateral ventricle dilatation	ORPHA:85290
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Gait disturbance	OMIM:236690
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Abnormal cortical gyration, Pachygyr...	OMIM:210710
Erythrokeratodermia Variabilis	Weight loss	ORPHA:317
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Large for gestational age, Gait ataxia, Cerebellar hypoplasia, Diffi...	ORPHA:457359
Perry Syndrome	Akinesia, Tremor, Weight loss, Dystonia, Short stepped shuffling gait	OMIM:168605
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Pachygyria, Polymicrogyria, Ventriculomegaly	OMIM:603387
16P13.11 Microdeletion Syndrome	Agenesis of corpus callosum, Holoprosencephaly, Ventriculomegaly, Abnormality of neuronal migration	ORPHA:261236
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Colpocephaly, Enlarged cerebellum	ORPHA:477993
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation, Pachygyria, Agyria	ORPHA:2148
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Overweight, Dilated third ventricle, Hydrocephalus, Gait disturbance, Failure to thrive, Ventricu...	ORPHA:500055
Sturge-Weber Syndrome	Hydrocephalus, Chiari malformation, Cerebral cortical atrophy	ORPHA:3205
Apert Syndrome	Hydrocephalus, Chiari type I malformation, Cerebellar hypoplasia, Agenesis of corpus callosum, Ve...	OMIM:101200
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
7Q11.23 Microduplication Syndrome	Hydrocephalus, Unsteady gait, Obesity, Dysmetria, Simplified gyral pattern, Cerebellar hypoplasia...	ORPHA:96121
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Broad-based gait, Ataxia, Impaired distal proprioception, Hypoesthesia, Impaired distal vibration...	OMIM:607459
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus, Obesity	OMIM:601794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cerebellar dysplasia, Type II lissencephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebell...	OMIM:253280
Choreoacanthocytosis	Impaired vibratory sensation, Resting tremor, Caudate atrophy, Head titubation, Chorea, Oromandib...	ORPHA:2388
Rett Syndrome	Cachexia, Gait apraxia, Truncal ataxia, Gait ataxia, Dystonia, Cerebral cortical atrophy	OMIM:312750
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Tenorio Syndrome	Hydrocephalus, Gait disturbance, Cerebral cortical atrophy, Ventriculomegaly	OMIM:616260
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus, Obesity	ORPHA:2180
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
16Q24.3 Microdeletion Syndrome	Colpocephaly, Ventriculomegaly, Periventricular heterotopia	ORPHA:261250
Gm1 Gangliosidosis	Generalized dystonia, Ataxia, Tremor, Unsteady gait, Weight loss, Gait disturbance, Dystonia, Fai...	ORPHA:354
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus	ORPHA:2701
Mulibrey Nanism	Cachexia	ORPHA:2576
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus, Cerebral atrophy, Decreased body weight	OMIM:614886
Alg11-Cdg	Ataxia, Cerebral atrophy, Opisthotonus, Gray matter heterotopia, Failure to thrive	ORPHA:280071
Holoprosencephaly	Encephalocele, Failure to thrive in infancy, Hydrocephalus, Chorea, Abnormality of neuronal migra...	ORPHA:2162
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus	ORPHA:1914
Monosomy 9Q22.3	Hydrocephalus, Chiari malformation, Ventriculomegaly, Large for gestational age	ORPHA:77301
Reticular Dysgenesis	Failure to thrive, Weight loss	ORPHA:33355
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Griscelli Syndrome	Encephalocele, Hydrocephalus, Ataxia	ORPHA:381
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation, Neuronal loss in central nervous system, Cerebral cortical atrophy	OMIM:607485
Classic Hodgkin Lymphoma	Ataxia, Weight loss	ORPHA:391
Smith-Lemli-Opitz Syndrome	Cerebellar atrophy, Diffuse cerebral atrophy, Periventricular heterotopia, Partial agenesis of th...	OMIM:270400
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Chorea, Ventriculomegaly	ORPHA:1855
Allergic Bronchopulmonary Aspergillosis	Cerebral cortical atrophy, Weight loss	ORPHA:1164
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Colpocephaly	OMIM:620113
Moynahan Syndrome	Cachexia	ORPHA:2574
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, Ventriculomegaly	OMIM:608836
Arima Syndrome	Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Brainstem ...	OMIM:243910
Gabriele-De Vries Syndrome	Waddling gait, Tremor, Lateral ventricle dilatation, Tip-toe gait, Dystonia	OMIM:617557
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:3301
Tetrasomy 18P	Gait disturbance, Abnormality of neuronal migration	ORPHA:3307
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Failure to thrive, Agenesis of corpus callosum	ORPHA:250989
Weaver Syndrome	Lateral ventricle dilatation, Cerebellar hypoplasia, Ventriculomegaly	OMIM:277590
Thanatophoric Dysplasia, Type I	Neonatal death, Gray matter heterotopia, Hydrocephalus	OMIM:187600
Lateral Meningocele Syndrome	Chiari type I malformation, Hydrocephalus, Meningocele	OMIM:130720
Bilateral Perisylvian Polymicrogyria	Cerebellar vermis hypoplasia, Perisylvian predominant thick cortex pachygyria, Abnormality of neu...	ORPHA:98889
Distal Triplication 15Q	Hydrocephalus, Dandy-Walker malformation, Large for gestational age	ORPHA:314588
Cockayne Syndrome A	Cerebellar atrophy, Ataxia, Tremor, Cerebral atrophy, Normal pressure hydrocephalus, Gait disturb...	OMIM:216400
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Lateral ventricle dilatation, Unsteady gait, Ataxia	ORPHA:457279
Otopalatodigital Syndrome Type 2	Encephalocele, Hydrocephalus, Myelomeningocele, Cerebellar hypoplasia, Failure to thrive	ORPHA:90652
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Bresek Syndrome	Neonatal death, Hydrocephalus	ORPHA:85284
Oromandibular Dystonia	Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Limb dystonia, Lingual dystonia, L...	ORPHA:93958
Basel-Vanagaite-Smirin-Yosef Syndrome	Inability to walk, Cerebral atrophy, Lateral ventricle dilatation, Difficulty walking, Dilated th...	ORPHA:464738
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Athetosis, Hydrocephalus, Cerebral cortical atrophy	OMIM:239300
Hypomelanosis Of Ito	Gray matter heterotopia, Cerebral atrophy	OMIM:300337
Whipple Disease	Hydrocephalus, Ataxia, Cachexia	ORPHA:3452
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum	OMIM:300952
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus, Chiari malformation	OMIM:618162
Perry Syndrome	Tremor, Weight loss	ORPHA:178509
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Large for gestational age, Abnormal pons morphology, Lateral ventricle dilatation, Cerebellar hyp...	OMIM:300868
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lateral ventricle dilatation	OMIM:618914
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pachygyria, Lateral ventricle dilatation, Cerebellar vermis hypoplasia	OMIM:263520
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephaly, ...	OMIM:249000
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Hydrocephalus, Ventriculomegaly	ORPHA:1860
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Pleural Mesothelioma	Weight loss	ORPHA:50251
Central Diabetes Insipidus	Failure to thrive, Weight loss	ORPHA:178029
X-Linked Creatine Transporter Deficiency	Ataxia, Cachexia, Chorea, Athetosis, Dystonia	ORPHA:52503
Fatal Familial Insomnia	Neuronal loss in central nervous system, Ataxia, Weight loss	OMIM:600072
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617260
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Mcdonough Syndrome	Cachexia	ORPHA:2471
Follicular Lymphoma	Weight loss	ORPHA:545
Erdheim-Chester Disease	Abnormal cerebellum morphology, Ataxia, Weight loss	ORPHA:35687
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Weight loss	ORPHA:1842
Non-Functioning Paraganglioma	Tremor, Weight loss	ORPHA:94080
Alpha-Mannosidosis, Infantile Form	Cerebellar atrophy, Communicating hydrocephalus, Ataxia, Subcortical cerebral atrophy, Chiari mal...	ORPHA:309282
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Failure to thrive, Chiari malformation, Ventriculomegaly	ORPHA:2462
Congenital Sialidosis Type 2	Hydrocephalus, Ataxia, Dysmetria	ORPHA:93400
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Ataxia	ORPHA:1861
Cockayne Syndrome B	Ataxia, Cerebellar calcifications, Small for gestational age, Tremor, Cerebral atrophy, Normal pr...	OMIM:133540
Holocarboxylase Synthetase Deficiency	Ataxia, Weight loss	ORPHA:79242
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Ataxia, Cachexia	ORPHA:42
Cerebrooculonasal Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation, Ventriculo...	OMIM:605627
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus, Ataxia, Cachexia	ORPHA:220295
Wilson Disease	Failure to thrive, Increased body weight, Difficulty walking, Weight loss	ORPHA:905
Hereditary Late-Onset Parkinson Disease	Resting tremor, Akinesia, Weight loss, Shuffling gait, Dystonia, Cerebral cortical atrophy	ORPHA:411602
Meningioma	Ataxia, Abnormal cerebellum morphology, Hydrocephalus, Obesity, Brain stem compression, Difficult...	ORPHA:2495
Arachnoiditis	Hydrocephalus, Paresthesia	ORPHA:137817
Gorlin Syndrome	Hydrocephalus	ORPHA:377
Alobar Holoprosencephaly	Inability to walk, Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, Limb dystoni...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Inability to walk, Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, Limb dystoni...	ORPHA:93926
Lobar Holoprosencephaly	Inability to walk, Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, Limb dystoni...	ORPHA:93924
Semilobar Holoprosencephaly	Inability to walk, Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, Limb dystoni...	ORPHA:220386
Infantile Krabbe Disease	Diffuse cerebral atrophy, Cachexia, Opisthotonus, Hyperesthesia, Failure to thrive, Increased CSF...	ORPHA:206436
Oxoglutaric Aciduria	Hydrocephalus, Ataxia	ORPHA:31
Aymé-Gripp Syndrome	Chiari type I malformation, Hydrocephalus, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:1272
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Congenital Myopathy 22A, Classic	Waddling gait, Normal pressure hydrocephalus, Neonatal death	OMIM:620351
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida, Waddling gait	ORPHA:2839
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:305450
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Koolen-De Vries Syndrome Due To A Point Mutation	Slender build, Small for gestational age, Spina bifida, Hydrocephalus, Chiari type I malformation...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Slender build, Small for gestational age, Spina bifida, Hydrocephalus, Chiari type I malformation...	ORPHA:363958
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Gait disturbance, Cachexia	ORPHA:2774
Iniencephaly	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Lis...	ORPHA:63259
Pfapa Syndrome	Weight loss	ORPHA:42642
Congenital Disorder Of Glycosylation, Type Iim	Lateral ventricle dilatation, Cerebellar hypoplasia, Cerebral atrophy	OMIM:300896
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Small for gestational age, Abnormal brainstem morphology, Abnormality of neuronal migration, Gait...	ORPHA:464311
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Periventricular heterotopia, Partial agene...	OMIM:615948
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Renpenning Syndrome	Cachexia	ORPHA:3242
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss	OMIM:143880
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus, Abdominal obesity, Cerebellar cortical atrophy	OMIM:619321
Vici Syndrome	Gray matter heterotopia, Failure to thrive, Cerebellar vermis hypoplasia, Agenesis of corpus call...	OMIM:242840
Takayasu Arteritis	Weight loss	ORPHA:3287
Rhabdoid Tumor	Weight loss	ORPHA:69077
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus, Failure to thrive	OMIM:259700
Yunis-Varon Syndrome	Hydrocephalus, Cerebellar hypoplasia, Neuronal loss in central nervous system, Severe failure to ...	ORPHA:3472
Shprintzen-Goldberg Craniosynostosis Syndrome	Chiari type I malformation, Hydrocephalus	OMIM:182212
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia	ORPHA:2166
Cerebral Visual Impairment	Central nervous system degeneration, Hydrocephalus, Neurodegeneration	ORPHA:447788
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Costello Syndrome	Hydrocephalus, Cerebral atrophy, Chiari type I malformation, Failure to thrive, Enlarged cerebell...	OMIM:218040
Peroxisome Biogenesis Disorder 1A (Zellweger)	Unsteady gait, Subependymal cysts, Gray matter heterotopia, Cerebral cortical atrophy, Loss of am...	OMIM:214100
Triploidy	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:3376
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Immunodeficiency 27A	Weight loss	OMIM:209950
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia	OMIM:619694
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus, Ventriculomegaly	OMIM:219730
Achondroplasia	Hydrocephalus, Obesity	ORPHA:15
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Cerebral cortical atrophy	ORPHA:1834
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Agenesis of corpus callosum, Colpocephaly	OMIM:309801
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Holoprosencephaly 7	Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Lobar holoprose...	OMIM:610828
Eosinophilic Fasciitis	Paresthesia, Weight loss	ORPHA:3165
Wiedemann-Rautenstrauch Syndrome	Small for gestational age, Hydrocephalus, Chiari malformation, Truncal ataxia, Failure to thrive,...	OMIM:264090
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Stillbirth, Severe hydrocephalu...	OMIM:236680
Trisomy 8P	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:264450
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus, Failure to thrive	ORPHA:974
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Tremor, Hydrocephalus, Failure to thrive, Cerebral cortical atrophy	OMIM:277400
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Agenesis of corpus callosum	ORPHA:268249
Fanconi Anemia, Complementation Group D2	Small for gestational age, Hydrocephalus, Agenesis of corpus callosum	OMIM:227646
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia, Hyperesthesia	ORPHA:371364
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Thakker-Donnai Syndrome	Communicating hydrocephalus, Agenesis of corpus callosum	ORPHA:1780
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Dystonia, Cerebral atrophy, Weight loss	OMIM:615846
Trisomy 18	Cachexia, Spina bifida, Anencephaly, Chiari malformation, Holoprosencephaly	ORPHA:3380
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Lateral ventricle dilatation, Choroid plexus cyst	ORPHA:293725
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Osteopathia Striata With Cranial Sclerosis	Failure to thrive, Partial agenesis of the corpus callosum, Spina bifida occulta, Hydrocephalus	OMIM:300373
Osteootohepatoenteric Syndrome	Hydrocephalus, Failure to thrive, Weight loss	OMIM:619377
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Gracile Bone Dysplasia	Hydrocephalus, Failure to thrive	OMIM:602361
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Ataxia, Weight loss	OMIM:256700
Primary Ciliary Dyskinesia	Hydrocephalus, Abnormal sperm motility, Ventriculomegaly	ORPHA:244
X-Linked Agammaglobulinemia	Failure to thrive, Weight loss	ORPHA:47
Polymyositis	Gait disturbance, Weight loss	ORPHA:732
Fanconi Anemia, Complementation Group L	Hydrocephalus, Cerebellar hypoplasia	OMIM:614083
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Fetal Akinesia Deformation Sequence 1	Hydrocephalus, Stillbirth, Small for gestational age, Cerebellar hypoplasia	OMIM:208150
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Atrophy of the spinal cord, Hydrocephalus, Cerebral atrophy, Failure to thrive	ORPHA:79282
Wiedemann-Rautenstrauch Syndrome	Ataxia, Slender build, Tremor, Hydrocephalus, Chiari type I malformation, Cerebellar hypoplasia, ...	ORPHA:3455
Eosinophilic Granulomatosis With Polyangiitis	Central nervous system degeneration, Gait disturbance, Weight loss	ORPHA:183
Liposarcoma	Paresthesia, Weight loss	ORPHA:69078
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Pain insensitivity, Hydrocephalus, Cerebral cortical atrophy, Distal sensory impairment	OMIM:616007
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Broad-based gait, Isometric tremor, Ataxia, Torticollis, Dystonia, Overweight, Head titubation, H...	OMIM:619475
Focal Myositis	Weight loss	ORPHA:48918
Noonan Syndrome 14	Lateral ventricle dilatation	OMIM:619745
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate	ORPHA:90065
Fontaine Progeroid Syndrome	Cerebellar vermis hypoplasia, Small for gestational age, Periventricular heterotopia, Hydrocephal...	OMIM:612289
Trisomy 17P	Hydrocephalus	ORPHA:261290
Cockayne Syndrome	Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Cachexia, Action tremor, Inability to wa...	ORPHA:191
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Periventricular heterotopia, Partial agenesis of the corpus callosum, M...	ORPHA:434179
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Failure to thrive in infancy, Dysplastic corpus callosum, Simplified gyral pattern, Lateral ventr...	ORPHA:500150
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida	ORPHA:2437
Leishmaniasis	Weight loss	ORPHA:507
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Kaposi Sarcoma	Weight loss	ORPHA:33276
Lowry-Maclean Syndrome	Hydrocephalus	ORPHA:2409
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Weight loss	OMIM:613239
Cardiofaciocutaneous Syndrome 1	Hydrocephalus, Failure to thrive, Cerebral cortical atrophy	OMIM:115150
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Hydrocephalus	OMIM:314390
Hajdu-Cheney Syndrome	Failure to thrive, Hydrocephalus, Chiari malformation	ORPHA:955
Mirage Syndrome	Hydrocephalus, Decreased body weight	OMIM:617053
Osteopetrosis, Autosomal Recessive 5	Cerebral atrophy, Hydrocephalus, Stillbirth, Ventriculomegaly	OMIM:259720
Craniopharyngioma	Abnormal hypothalamus morphology, Hydrocephalus, Obesity	ORPHA:54595
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Mend Syndrome	Hydrocephalus, Failure to thrive, Dandy-Walker malformation	ORPHA:401973
X-Linked Intellectual Disability, Cabezas Type	Tremor, Broad-based gait, Obesity, Cachexia	ORPHA:85293
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hydrocephalus, Cerebellar hypoplasia	ORPHA:163979
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Neonatal death, Hydrocephalus	OMIM:616482
Mend Syndrome	Hydrocephalus, Failure to thrive, Dandy-Walker malformation	OMIM:300960
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Deafness-Lymphedema-Leukemia Syndrome	Weight loss	ORPHA:3226
Holoprosencephaly 9	Hydrocephalus, Partial agenesis of the corpus callosum, Abnormal cortical gyration, Holoprosencep...	OMIM:610829
Thymic Carcinoma	Weight loss	ORPHA:99868
Celiac Disease, Susceptibility To, 1	Failure to thrive, Ataxia, Weight loss	OMIM:212750
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Chronic Beryllium Disease	Weight loss	ORPHA:133
Giant Cell Arteritis	Ataxia, Paresthesia, Weight loss	ORPHA:397
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, Spina bifida, Diffuse cerebral atrophy	OMIM:613776
Baller-Gerold Syndrome	Hydrocephalus, Chiari malformation, Spina bifida occulta, Agenesis of corpus callosum, Polymicrog...	OMIM:218600
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation, Failure to thrive, Opisthotonus	OMIM:614098
Mucopolysaccharidosis Type 3	Ataxia, Hydrocephalus, Central nervous system degeneration, Gait disturbance, Loss of ambulation,...	ORPHA:581
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus	OMIM:259710
Mucopolysaccharidosis, Type Ii	Hydrocephalus, Neurodegeneration	OMIM:309900
Cardiofaciocutaneous Syndrome	Hydrocephalus, Failure to thrive in infancy, Cerebral cortical atrophy	ORPHA:1340
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocephalus, Brain atrophy, Ventriculomegaly	OMIM:613603
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Ataxia, Cerebral atrophy	OMIM:616084
Oculopharyngodistal Myopathy 1	Ataxia, Tremor, Weight loss, Brain atrophy, Difficulty walking	OMIM:164310
Tetrasomy 12P	Cachexia	ORPHA:884
Osteosarcoma	Weight loss	ORPHA:668
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Ring Chromosome 10 Syndrome	Cachexia	ORPHA:1438
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Holoprosencephaly 13, X-Linked	Semilobar holoprosencephaly, Agenesis of corpus callosum, Colpocephaly, Alobar holoprosencephaly	OMIM:301043
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hydrocephalus	OMIM:619951
Cronkhite-Canada Syndrome	Cachexia	ORPHA:2930
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Abnormal cortical gyration, Exencephaly, Abnormality of neuronal migration, Macrog...	ORPHA:2211
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Lynch Syndrome	Paresthesia, Gait disturbance, Weight loss	ORPHA:144
Polyarteritis Nodosa	Weight loss	ORPHA:767
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Majeed Syndrome	Failure to thrive, Cachexia, Weight loss	ORPHA:77297
Beta-Ketothiolase Deficiency	Ataxia, Weight loss	ORPHA:134
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus	ORPHA:1865
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Hypoesthesia, Weight loss, Distal sensory impairment, Slender build, Allodynia	OMIM:603041
Koolen-De Vries Syndrome	Gray matter heterotopia, Failure to thrive, Small for gestational age, Ventriculomegaly	OMIM:610443
Familial Colorectal Cancer Type X	Paresthesia, Gait disturbance, Weight loss	ORPHA:440437
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Prader-Willi Syndrome Due To Translocation	Lateral ventricle dilatation, Cerebral cortical atrophy, Obesity	ORPHA:177907
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Inability to walk, Hydrocephalus, Brain atrophy	ORPHA:505248
Anaplastic Thyroid Carcinoma	Weight loss	ORPHA:142
Acrodysostosis 1 With Or Without Hormone Resistance	Hydrocephalus, Small for gestational age	OMIM:101800
Mucopolysaccharidosis, Type Vii	Hydrocephalus, Neurodegeneration	OMIM:253220
Hurler Syndrome	Hydrocephalus, Neurodegeneration	OMIM:607014
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Xfe Progeroid Syndrome	Cachexia, Failure to thrive, Ventriculomegaly	OMIM:610965
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Obesity, Chiari type I malformation, Chiari malformation, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Obesity, Chiari type I malformation, Chiari malformation, ...	ORPHA:353277
Bullous Pemphigoid	Weight loss	ORPHA:703
Cap Polyposis	Weight loss	ORPHA:160148
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hydrocephalus, Chiari malformation, Stillbirth	ORPHA:95699
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus	OMIM:616914
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus	OMIM:601499
Secondary Short Bowel Syndrome	Failure to thrive, Weight loss	ORPHA:95427
Cryptogenic Organizing Pneumonia	Weight loss	ORPHA:1302
Aggressive Systemic Mastocytosis	Weight loss	ORPHA:98850
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus	ORPHA:2969
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Weight loss	ORPHA:171876
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Idiopathic Chronic Eosinophilic Pneumonia	Weight loss	ORPHA:2902
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Cerebellar vermis hypoplasia, Limb tremor, Mild fetal ventriculomega...	OMIM:619841
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Wild Type Attr Amyloidosis	Weight loss	ORPHA:330001
Kabuki Syndrome	Hydrocephalus, Obesity, Failure to thrive, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:2322
Loeffler Endocarditis	Weight loss	ORPHA:75566
Functioning Gonadotropic Adenoma	Hydrocephalus	ORPHA:91348
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Multiple Sulfatase Deficiency	Hydrocephalus	ORPHA:585
Yao Syndrome	Weight loss	OMIM:617321
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Cachexia	ORPHA:93941
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hydrocephalus	ORPHA:1555
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
Coffin-Siris Syndrome 12	Noncommunicating hydrocephalus, Chiari malformation, Hippocampal atrophy, Failure to thrive, Enla...	OMIM:619325
Genitopalatocardiac Syndrome	Hydrocephalus	ORPHA:2075
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Waddling gait, Broad-based gait, Steppage gait, Tip-toe gait	OMIM:615290
Chromosome 1P36 Deletion Syndrome, Distal	Hydrocephalus, Obesity, Lateral ventricle dilatation, Cerebral cortical atrophy, Pachygyria, Agen...	OMIM:607872
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Broad-based gait, Cachexia, Hydrocephalus, Limb ataxia, Ventriculomegaly	ORPHA:2072
Sporadic Pheochromocytoma/Secreting Paraganglioma	Tremor, Weight loss	ORPHA:276621
3-Hydroxy-3-Methylglutaric Aciduria	Ataxia, Weight loss	ORPHA:20
African Trypanosomiasis	Somatic sensory dysfunction, Akinesia, Tremor, Myelopathy, Impaired proprioception, Weight loss, ...	ORPHA:3385
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebellar atrophy, Hydrocephalus, Dystonia, Limb dystonia	OMIM:175780
Focal Dermal Hypoplasia	Hydrocephalus, Myelomeningocele, Chiari malformation, Spina bifida occulta, Agenesis of corpus ca...	OMIM:305600
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia, Difficulty walking	ORPHA:531151
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Agenesis of corpus callosum	ORPHA:2658
Osteogenesis Imperfecta	Somatic sensory dysfunction, Ataxia, Small for gestational age, Hydrocephalus, Noncommunicating h...	ORPHA:666
Igg4-Related Aortitis	Weight loss	ORPHA:449400
Felty Syndrome	Weight loss	ORPHA:47612
Eosinophilic Gastroenteritis	Weight loss	ORPHA:2070
Short-Rib Thoracic Dysplasia 12	Neonatal death, Hydrocephalus, Anencephaly, Holoprosencephaly	OMIM:269860
Acrodermatitis Enteropathica	Failure to thrive, Cerebral cortical atrophy, Weight loss	ORPHA:37
Short Syndrome	Weight loss	ORPHA:3163
Mucopolysaccharidosis Type 1	Hydrocephalus, Paresthesia	ORPHA:579
Aredyld Syndrome	Cachexia	ORPHA:1133
Achondroplasia	Brain stem compression, Hydrocephalus	OMIM:100800
8P23.1 Microdeletion Syndrome	Obesity, Weight loss	ORPHA:251071
Microphthalmia With Linear Skin Defects Syndrome	Hydrocephalus, Failure to thrive, Agenesis of corpus callosum	ORPHA:2556
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Difficulty walking	ORPHA:363454
Jacobsen Syndrome	Hydrocephalus, Failure to thrive, Holoprosencephaly	OMIM:147791
Congenital Tufting Enteropathy	Failure to thrive, Weight loss	ORPHA:92050
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Oeis Complex	Myelomeningocele, Chiari malformation, Hydrocephalus	OMIM:258040
Poems Syndrome	Paresthesia, Hyperesthesia, Weight loss	ORPHA:2905
19Q13.11 Microdeletion Syndrome	Failure to thrive, Cachexia	ORPHA:217346
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Weight loss	ORPHA:324964
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Impaired pain sens...	ORPHA:261537
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia, Inability to walk	ORPHA:26791
Symptomatic Form Of Hfe-Related Hemochromatosis	Weight loss	ORPHA:465508
Ménétrier Disease	Weight loss	ORPHA:2494
Loeys-Dietz Syndrome 1	Hydrocephalus, Chiari malformation	OMIM:609192
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus	OMIM:207410
Wolf-Hirschhorn Syndrome	Small for gestational age, Hydrocephalus, Failure to thrive, Agenesis of corpus callosum, Ventric...	OMIM:194190
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hydrocephalus	OMIM:245600
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Refractory Celiac Disease	Weight loss	ORPHA:398063
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Chiari...	ORPHA:573278
Meckel Syndrome	Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation	ORPHA:564
Riddle Syndrome	Ataxia, Gait disturbance, Weight loss	ORPHA:420741
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Hypoglycorrhachia, Ataxia	ORPHA:168577
Nephroblastoma	Weight loss	ORPHA:654
Acute Monoblastic/Monocytic Leukemia	Weight loss	ORPHA:514
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia, Cerebral atrophy	OMIM:618797
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Gray matter heterotopia, Inability to walk, Agenesis of corpus callosum, Impaired pain sensation	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Gray matter heterotopia, Inability to walk, Agenesis of corpus callosum, Impaired pain sensation	ORPHA:352665
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Paresthesia, Cachexia	OMIM:175500
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
Rheumatoid Arthritis	Weight loss	OMIM:180300
Wolman Disease	Cachexia	ORPHA:75233
Silver-Russell Syndrome	Failure to thrive in infancy, Obesity, Cachexia	ORPHA:813
Systemic Capillary Leak Syndrome	Weight loss	ORPHA:188
Acute Promyelocytic Leukemia	Weight loss	ORPHA:520
Van Maldergem Syndrome 1	Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ...	OMIM:601390
Thymic Neuroendocrine Tumor	Weight loss	ORPHA:97289
Raine Syndrome	Neonatal death, Hydrocephalus	OMIM:259775
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Simple Cryoglobulinemia	Weight loss, Paresthesia, Spontaneous pain sensation	ORPHA:91139
Helsmoortel-Van Der Aa Syndrome	Obesity, Truncal obesity, Lateral ventricle dilatation, Failure to thrive, Ventriculomegaly	OMIM:615873
Medullary Thyroid Carcinoma	Weight loss	ORPHA:1332
Pneumocystosis	Weight loss	ORPHA:723
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Primary Myelofibrosis	Cachexia	ORPHA:824
Miller-Dieker Lissencephaly Syndrome	Failure to thrive, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:247200
Mohr Syndrome	Hydrocephalus	OMIM:252100
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly	ORPHA:1335
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hydrocephalus, Torticollis	ORPHA:536467
Cousin Syndrome	Hydranencephaly, Hydrocephalus	OMIM:260660
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia, Obesity	OMIM:608624
Lymphoid Interstitial Pneumonia	Failure to thrive, Weight loss	ORPHA:79128
Pemphigus Vulgaris	Weight loss	ORPHA:704
Hereditary Pheochromocytoma-Paraganglioma	Tremor, Weight loss	ORPHA:29072
Peroxisome Biogenesis Disorder 13A (Zellweger)	Neonatal death, Gray matter heterotopia, Polymicrogyria	OMIM:614887
Familial Glucocorticoid Deficiency	Failure to thrive, Weight loss	ORPHA:361
Hurler Syndrome	Hydrocephalus	ORPHA:93473
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Solitary Fibrous Tumor	Weight loss	ORPHA:2126
Primary Intestinal Lymphangiectasia	Weight loss	ORPHA:90362
H Syndrome	Hydrocephalus	ORPHA:168569
Alveolar Echinococcosis	Ataxia, Weight loss	ORPHA:284
Imerslund-Gräsbeck Syndrome	Failure to thrive, Weight loss	ORPHA:35858
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Tetrasomy 9P	Hydrocephalus, Lissencephaly, Pachygyria, Polymicrogyria, Dandy-Walker malformation	ORPHA:3310
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Impaired pain sens...	ORPHA:261552
Gaucher Disease	Tremor, Hydrocephalus, Ataxia, Ventriculomegaly	ORPHA:355
Adrenocortical Carcinoma	Increased body weight, Weight loss	ORPHA:1501
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Hereditary Amyloidosis With Primary Renal Involvement	Weight loss	ORPHA:85450
Dubowitz Syndrome	Hydrocephalus, Spina bifida occulta	ORPHA:235
Fraser Syndrome 3	Hydrocephalus, Stillbirth	OMIM:617667
Dextrocardia	Hydrocephalus	ORPHA:1666
Fanconi Anemia	Hydrocephalus, Ventriculomegaly, Spina bifida, Weight loss	ORPHA:84
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Hand tremor, Weight loss	ORPHA:424
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Drug Reaction With Eosinophilia And Systemic Symptoms	Weight loss	ORPHA:139402
Malignant Atrophic Papulosis	Pain insensitivity, Weight loss	ORPHA:679
Late-Onset Isolated Acth Deficiency	Failure to thrive, Weight loss	ORPHA:199299
Bronchial Neuroendocrine Tumor	Weight loss	ORPHA:97287
Thymoma	Weight loss	ORPHA:99867
Cystic Echinococcosis	Weight loss	ORPHA:400
Hajdu-Cheney Syndrome	Hydrocephalus, Failure to thrive	OMIM:102500
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Coccidioidomycosis	CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Hypoglycorrhachia, Increased CSF pr...	ORPHA:228123
Primary Hepatic Neuroendocrine Carcinoma	Weight loss	ORPHA:100085
Neuroendocrine Tumor Of The Colon	Weight loss	ORPHA:100080
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Weight loss	ORPHA:54251
Peters-Plus Syndrome	Hydrocephalus, Cerebral atrophy, Decreased body weight, Agenesis of corpus callosum, Ventriculome...	OMIM:261540
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Ventriculomegaly	OMIM:618188
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus	OMIM:104350
Cryptococcosis	Hydrocephalus, Cerebral cortical atrophy	ORPHA:1546
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus	OMIM:244400
Al Amyloidosis	Weight loss	ORPHA:85443
Mucolipidosis Type Ii	Inability to walk, Weight loss	ORPHA:576
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ataxia, Weight loss	ORPHA:99885
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida	OMIM:109400
Genitopatellar Syndrome	Colpocephaly, Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia	OMIM:606170
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hydrocephalus	OMIM:253200
Neuroendocrine Tumor Of The Rectum	Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Weight loss	ORPHA:100082
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia, Failure to thrive, Impaired pain sensation	ORPHA:453499
22Q11.2 Deletion Syndrome	Spina bifida, Hydrocephalus, Meningocele, Obesity, Occipital myelomeningocele, Failure to thrive	ORPHA:567
Simpson-Golabi-Behmel Syndrome, Type 1	Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:312870
Schwartz-Jampel Syndrome	Blepharospasm, Gait disturbance, Cachexia, Decreased body weight	ORPHA:800
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Systemic Mastocytosis With Associated Hematologic Neoplasm	Weight loss	ORPHA:98849
Loeys-Dietz Syndrome 2	Hydrocephalus, Chiari malformation	OMIM:610168
Behçet Disease	Ataxia, Paresthesia, Gait disturbance, Weight loss	ORPHA:117
Campomelic Dysplasia	Hydrocephalus, Failure to thrive, Spina bifida, Spinal dysraphism	OMIM:114290
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss	ORPHA:2298
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Van Maldergem Syndrome 2	Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia	OMIM:615546
Isotretinoin-Like Syndrome	Hydrocephalus	ORPHA:2306
Microphthalmia With Limb Anomalies	Hydrocephalus, Failure to thrive	ORPHA:1106
Kabuki Syndrome 1	Hydrocephalus, Lateral ventricle dilatation	OMIM:147920
Craniofacial Microsomia 1	Occipital encephalocele, Hydrocephalus, Chiari malformation, Agenesis of corpus callosum	OMIM:164210
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Weight loss	ORPHA:1018
Familial Gestational Hyperthyroidism	Hand tremor, Weight loss	ORPHA:99819
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Thyrotoxic Periodic Paralysis	Tremor, Obesity, Weight loss	ORPHA:79102
Amoebiasis Due To Entamoeba Histolytica	Weight loss	ORPHA:67
Scalp-Ear-Nipple Syndrome	Lateral ventricle dilatation	OMIM:181270
Familial Thrombocytosis	Paresthesia, Weight loss	ORPHA:71493
Polycythemia Vera	Weight loss	ORPHA:729
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Neurofibromatosis Type 1	Hydrocephalus, Ataxia, Paresthesia	ORPHA:636
Q Fever	Weight loss	ORPHA:781
Lysosomal Acid Lipase Deficiency	Failure to thrive, Cachexia, Weight loss	ORPHA:275761
Acute Adrenal Insufficiency	Failure to thrive, Weight loss	ORPHA:95409
Juvenile Dermatomyositis	Weight loss	ORPHA:93672
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Igg4-Related Retroperitoneal Fibrosis	Weight loss	ORPHA:49041
Anemia, Congenital Dyserythropoietic, Type Iv	Weight loss	OMIM:613673
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
Granulomatosis With Polyangiitis	Weight loss	OMIM:608710
Caroli Disease	Weight loss	ORPHA:53035
Fraser Syndrome 1	Encephalocele, Myelomeningocele, Abnormal cortical gyration, Hydrocephalus	OMIM:219000
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus	OMIM:261740
Neuroendocrine Tumor Of Stomach	Weight loss	ORPHA:100075
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Failure to thrive in infancy, Cachexia	ORPHA:37042
Hermansky-Pudlak Syndrome	Weight loss	ORPHA:79430
Stevens-Johnson Syndrome	Weight loss	ORPHA:36426
Nijmegen Breakage Syndrome	Abnormality of neuronal migration, Cachexia	ORPHA:647
Klatskin Tumor	Weight loss	ORPHA:99978
Norrie Disease	Aplasia/Hypoplasia of the cerebellum, Failure to thrive, Cerebral cortical atrophy, Cachexia	ORPHA:649
Bannayan-Riley-Ruvalcaba Syndrome	Cachexia	ORPHA:109
Toxic Epidermal Necrolysis	Weight loss	ORPHA:537
Autosomal Recessive Malignant Osteopetrosis	Tremor, Hydrocephalus	ORPHA:667
Limb Body Wall Complex	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta	ORPHA:2369
Multiple Myeloma	Paresthesia, Weight loss	ORPHA:29073
Camurati-Engelmann Disease	Waddling gait, Slender build, Ataxia, Cachexia	ORPHA:1328
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus, Gait disturbance	ORPHA:3042
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Tsh-Secreting Pituitary Adenoma	Tremor, Weight loss	ORPHA:91347
Brucellosis	Chorea, Failure to thrive, Small for gestational age, Weight loss	ORPHA:1304
Distal 22Q11.2 Microduplication Syndrome	Hydrocephalus	ORPHA:261337
Cystinosis, Nephropathic	Failure to thrive in infancy, Cerebral atrophy, Weight loss	OMIM:219800
Pseudoaminopterin Syndrome	Hydrocephalus	ORPHA:221120
Castleman Disease	Weight loss	ORPHA:160
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Broad-based gait, Polymicrogyria, Periventricular nodular heterotopia	OMIM:618918
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Microsporidiosis	Cachexia, Weight loss	ORPHA:2552
Renal Nutcracker Syndrome	Weight loss	ORPHA:71273
Lymphangioleiomyomatosis	Hydrocephalus	ORPHA:538
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus, Lower limb dysmetria	ORPHA:363700
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Weight loss	ORPHA:2020
Gallbladder Neuroendocrine Tumor	Weight loss	ORPHA:100086
Immunodeficiency 31C	Weight loss	OMIM:614162
Addison Disease	Failure to thrive, Weight loss	ORPHA:85138
Primary Sclerosing Cholangitis	Weight loss	ORPHA:171
Kikuchi-Fujimoto Disease	Ataxia, Weight loss	ORPHA:50918
Familial Pancreatic Carcinoma	Weight loss	ORPHA:1333
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Peters Plus Syndrome	Hydrocephalus, Spina bifida occulta, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:709
Granulomatosis With Polyangiitis	Weight loss	ORPHA:900
Rat-Bite Fever	Weight loss	ORPHA:31205
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Shuffling gait, Weight loss	ORPHA:740
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss	ORPHA:309031
Ileal Neuroendocrine Tumor	Weight loss	ORPHA:100078
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Holoprosencephaly, Abnormality of neuronal migration	ORPHA:3186
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss	ORPHA:85408
Seckel Syndrome	Cachexia	ORPHA:808
Pagod Syndrome	Encephalocele, Meningocele, Abnormality of neuronal migration, Spina bifida	ORPHA:991
Ppoma	Weight loss	ORPHA:97278
Reactive Arthritis	Weight loss	ORPHA:29207
Somatostatinoma	Weight loss	ORPHA:97283
Marfan Syndrome	Meningocele, Slender build, Cachexia	ORPHA:558
Grfoma	Weight loss	ORPHA:97261
Parathyroid Carcinoma	Weight loss	ORPHA:143
Vipoma	Weight loss	ORPHA:97282
Postinfectious Vasculitis	Weight loss	ORPHA:48435
Zollinger-Ellison Syndrome	Weight loss	ORPHA:913
Pulmonary Alveolar Microlithiasis	Weight loss	ORPHA:60025
Glucagonoma	Weight loss	ORPHA:97280
Pyomyositis	Weight loss	ORPHA:764
Sarcoidosis	Increased CSF protein concentration, Abnormal cerebrospinal fluid morphology, Weight loss	ORPHA:797
Tropical Pancreatitis	Weight loss	ORPHA:103918
Dermatomyositis	Weight loss	ORPHA:221
Mucopolysaccharidosis Type 2	Communicating hydrocephalus	ORPHA:580
Pancreatoblastoma	Weight loss	ORPHA:677
Townes-Brocks Syndrome 1	Hydrocephalus, Small for gestational age, Holoprosencephaly	OMIM:107480
Malt Lymphoma	Weight loss	ORPHA:52417
Tetraamelia Syndrome 1	Hydrocephalus	OMIM:273395
Tuberous Sclerosis Complex	Noncommunicating hydrocephalus, Subependymal nodules	ORPHA:805
Otopalatodigital Syndrome, Type Ii	Hydrocephalus, Stillbirth, Spina bifida	OMIM:304120
Multiple Endocrine Neoplasia Type 1	Weight loss	ORPHA:652
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Juvenile Polyposis Of Infancy	Cachexia	ORPHA:79076
Nocardiosis	Weight loss	ORPHA:31204
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Weight loss	OMIM:301074
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Failure to thrive, Weight loss	ORPHA:90794
Igg4-Related Kidney Disease	Weight loss	ORPHA:449395
Igg4-Related Dacryoadenitis And Sialadenitis	Weight loss	ORPHA:79078
Sarcoidosis, Susceptibility To, 1	Weight loss	OMIM:181000
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Stickler Syndrome	Slender build, Cachexia	ORPHA:828
Immunodeficiency 82 With Systemic Inflammation	Weight loss	OMIM:619381
Proteus Syndrome	Gray matter heterotopia, Cachexia	ORPHA:744
Roberts-Sc Phocomelia Syndrome	Hydrocephalus, Frontal encephalocele, Stillbirth	OMIM:268300
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Cushing Syndrome Due To Ectopic Acth Secretion	Truncal obesity, Abdominal obesity, Increased body weight, Weight loss	ORPHA:99889
Chronic Graft Versus Host Disease	Weight loss	ORPHA:99921
Tubulointerstitial Nephritis And Uveitis Syndrome	Weight loss	ORPHA:91500
Goodpasture Syndrome	Weight loss	OMIM:233450
Tropical Endomyocardial Fibrosis	Cachexia	ORPHA:75565

Histopathology

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

There is no histopathology data for Bicd2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Bicd2.

No publications found that use IMPC mice or data for Bicd2.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Bicd2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Bicd2^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Bicd2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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