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Gene: Jhy MGI:1918239

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

junctional cadherin complex regulator

Synonyms:

4931429I11Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Jhy mutations

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

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

Human diseases associated with Jhy (0 diseases)
Human diseases predicted to be associated with Jhy (896 diseases)

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

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

Disease	Matching phenotypes	Source
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Tremor, Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly	OMIM:611808
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Subcortical cerebral atr...	ORPHA:2703
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Pineocytoma	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking	ORPHA:251912
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hemiplegia/hemiparesis, Hydrocephalus, Hypertonia	ORPHA:2807
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Atypical Teratoid Rhabdoid Tumor	Hemiplegia/hemiparesis, Hydrocephalus, Cerebral palsy, Ataxia	ORPHA:99966
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus, Truncal ataxia	OMIM:220200
Alg13-Cdg	Clumsiness, Abnormal lateral ventricle morphology, Global brain atrophy, Decreased body weight	ORPHA:324422
Juvenile Huntington Disease	Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Cerebellar vermis atrophy, Gait a...	ORPHA:248111
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ataxia, Ventriculomegaly	OMIM:618709
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Lateral ventricle dilatation, Neurodegene...	OMIM:615889
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly	OMIM:604213
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive	OMIM:129850
Masa Syndrome	Lower limb spasticity, Hydrocephalus, Spastic paraplegia, Paraplegia, Shuffling gait, Agenesis of...	OMIM:303350
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma...	OMIM:615362
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Lissencephaly 4	Hypertonia, Colpocephaly, Babinski sign, Agenesis of corpus callosum	OMIM:614019
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Cachexia, Hydrocephalus, Abnormal pyramidal sign, Spasticity, Palatal...	ORPHA:363717
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Failure to thrive, Gait disturbance	ORPHA:26
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki...	ORPHA:363654
Central Neurocytoma	Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Babinski sign, ...	ORPHA:73256
Autosomal Recessive Spastic Paraplegia Type 66	Lower limb spasticity, Impaired vibration sensation in the lower limbs, Limb hypertonia, Colpocep...	ORPHA:401815
Huntington Disease-Like 2	Caudate atrophy, Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance, Cere...	ORPHA:98934
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Lateral ventricle dilatation, Difficulty walking...	ORPHA:306669
Band Heterotopia	Hydrocephalus, Lateral ventricle dilatation, Spasticity, Agenesis of corpus callosum, Ventriculom...	OMIM:600348
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Brain atrophy, Hydranencephaly, Dandy-Walker ...	OMIM:617967
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Dilated fourth ventricle, Torticollis, Small for gestational age, Ataxia, Babinski sign, Increase...	OMIM:619054
Alexander Disease	Ataxia, Hydrocephalus, Babinski sign, Dysmetria, Spasticity, Palatal tremor, Increased CSF protei...	OMIM:203450
Huntington Disease-Like 1	Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai...	ORPHA:157941
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired temperature ...	ORPHA:99947
1Q21.1 Microduplication Syndrome	Hypertonia, Cryptorchidism, Hydrocephalus, Failure to thrive	ORPHA:250994
Papillary Tumor Of The Pineal Region	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking	ORPHA:251915
2,4-Dienoyl-Coa Reductase Deficiency	Cerebellar atrophy, Incoordination, Ataxia, Clonus, Hydrocephalus, Tetraplegia, Increased CSF lac...	OMIM:616034
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Diaminopentanuria	Neurodegeneration, Spasticity, Ataxia	OMIM:222350
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Spasticity	OMIM:615599
Diencephalic Syndrome	Hydrocephalus, Cachexia, Decreased body weight	ORPHA:1672
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Tremor, Broad-based gait, Hydrocephalus, Spastic tetraparesis	OMIM:619470
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Spasticity	ORPHA:397951
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal...	OMIM:617672
Fried Syndrome	Hydrocephalus, Gait disturbance, Spastic diplegia	ORPHA:85335
Krabbe Disease	Diffuse cerebral atrophy, Hydrocephalus, Hypertonia, Neurodegeneration, Decerebrate rigidity, Pro...	OMIM:245200
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Developmental And Epileptic Encephalopathy 36	Cerebral atrophy, Hydrocephalus, Abnormal pyramidal sign, Abnormality of extrapyramidal motor fun...	OMIM:300884
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Martsolf Syndrome 2	Lateral ventricle dilatation, Spastic diplegia, Brain atrophy, Decreased body weight	OMIM:619420
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Partial agenesis of the corpus callosum, Spastic tetraplegia, Hypertonia, Agenesis...	OMIM:619302
Gómez-López-Hernández Syndrome	Hydrocephalus, Ataxia, Impaired pain sensation	ORPHA:1532
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration	OMIM:610951
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Cerebellar atrophy, Abnormal lateral ventricle morphology, Gait imbalance, Gait ataxia	ORPHA:488635
Intellectual Developmental Disorder, Autosomal Recessive 68	Cerebellar atrophy, Hydrocephalus, Small for gestational age	OMIM:618302
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Babinski sign, Spastic p...	OMIM:612319
Aicardi-Goutieres Syndrome 4	Cerebellar atrophy, Hydrocephalus, Cerebral atrophy, CSF lymphocytic pleiocytosis, Spasticity, Ve...	OMIM:610333
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Ataxia, Inability to walk, Hydrocephalus, Spastic tetraplegia, Hypertonia	OMIM:618174
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly, Spasticity	OMIM:304100
Nasu-Hakola Disease	Hydrocephalus, Chorea, Oculomotor apraxia, Spasticity, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:2770
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai...	OMIM:618093
Leukoencephalopathy With Vanishing White Matter 5	Loss of ambulation, Lateral ventricle dilatation, Dilated third ventricle	OMIM:620315
Pontocerebellar Hypoplasia, Type 1A	Ataxia, Hand tremor, Limb ataxia, Degeneration of anterior horn cells, Lateral ventricle dilatati...	OMIM:607596
Christianson Syndrome	Cerebellar atrophy, Cachexia, Gait ataxia, Truncal ataxia, Neuronal loss in central nervous syste...	ORPHA:85278
Microphthalmia-Brain Atrophy Syndrome	Diffuse cerebral atrophy, Corpus callosum atrophy, Lateral ventricle dilatation, Atrophy/Degenera...	ORPHA:77299
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski sign, G...	OMIM:615157
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Holoprosencephaly, Spasticity, Agenes...	ORPHA:2182
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Spastic paraplegia, Spasticity, Agenesis of corpus callosum	OMIM:307000
Spastic Paraplegia 79B, Autosomal Recessive	Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Ataxia, Postural tremor,...	OMIM:615491
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Obesity, Cerebral atrophy	OMIM:616521
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
L1 Syndrome	Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Gait disturbance, Spasticity	ORPHA:275543
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Biemond Syndrome Type 2	Hydrocephalus, Obesity	ORPHA:141333
Unilateral Hemispheric Polymicrogyria	Hemiparesis, Lateral ventricle dilatation	ORPHA:101071
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Hydrocephalus, Spastic tetraplegia	OMIM:300886
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Pulmonary Blastoma	Weight loss	ORPHA:64741
Huntington Disease-Like 2	Rigidity, Chorea, Weight loss, Bradykinesia, Cerebral cortical atrophy, Action tremor	OMIM:606438
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Gait disturbance	OMIM:236690
Huntington Disease	Caudate atrophy, Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sig...	ORPHA:399
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Frontal encephalocele	ORPHA:261102
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation, Cerebral atrophy	OMIM:618266
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Hydrocephalus, Obesity	ORPHA:2183
Neurodegeneration With Brain Iron Accumulation 6	Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Neurodegeneration, S...	OMIM:615643
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation, Progressive spasticity	OMIM:619972
Intellectual Developmental Disorder, X-Linked 103	Bilateral cryptorchidism, Lateral ventricle dilatation	OMIM:300982
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly	OMIM:614870
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum	ORPHA:1528
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation, Truncal ataxia	OMIM:220220
Congenital Toxoplasmosis	Hydrocephalus, Failure to thrive in infancy, Ventriculomegaly	ORPHA:858
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Gait ataxia, Increased CSF lactate, Weight loss, Failure to thrive	OMIM:612075
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Babinski sign, Cerebral atrophy, Lateral ventricle dilatation, Gait disturbance,...	OMIM:221770
Muscle-Eye-Brain Disease	Hemiplegia/hemiparesis, Hydrocephalus, Meningocele, Hypertonia, Gait disturbance, Holoprosencephaly	ORPHA:588
Tuberculosis	Weight loss	ORPHA:3389
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Spastic paraplegia	OMIM:615191
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Paraparesis, Oromotor apraxia...	OMIM:617854
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Ataxia, Ventriculomegaly	ORPHA:1933
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus, Obesity	OMIM:601794
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hemiparesis, Hydrocephalus, Unsteady gait, Agenesis of corpus callosum	OMIM:617542
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Williams-Beuren Region Duplication Syndrome	Speech apraxia, Small for gestational age, Cryptorchidism, Hydrocephalus, Gait disturbance, Failu...	OMIM:609757
Oxoglutaric Aciduria	Hydrocephalus, Hypertonia, Ataxia	ORPHA:31
Chiari Malformation Type Ii	Ataxia, Spina bifida, Hydrocephalus, Myelomeningocele, Opisthotonus, Cervical myelopathy, Agenesi...	OMIM:207950
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hemiplegia, Hydrocephalus, Gait disturbance	ORPHA:2181
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Cryptorchidism, Neurodeg...	OMIM:214150
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation, Cerebral cortical atrophy, Spastic tetraparesis	OMIM:617668
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Isaacs Syndrome	Fasciculations, Distal sensory impairment, Weight loss	ORPHA:84142
Developmental And Epileptic Encephalopathy 31B	Appendicular spasticity, Clonus, Involuntary movements, Opisthotonus, Colpocephaly, Myoclonus, Br...	OMIM:620352
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Gait disturbance, Ventriculomegaly	ORPHA:272
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lower limb spasticity, Ventriculomegaly, Ataxia, Atrophy of the spinal cord, Hydrocephalus, Hemip...	ORPHA:395
Glutaric Acidemia I	Rigidity, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Lateral ventricle dilat...	OMIM:231670
Cach Syndrome	Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Spastic diplegia, Limb ataxia, ...	ORPHA:135
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Neurodegeneration, Ventriculomegaly	OMIM:620210
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Weight loss, Bradyk...	OMIM:137440
Infantile Sialic Acid Storage Disease	Hydrocephalus, Failure to thrive, Cerebral atrophy	OMIM:269920
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ataxia, Small for gestational age, Inability to walk, Partial agenesis of the corpus callosum, Ce...	ORPHA:79243
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation, Hypertonia, Spasticity	OMIM:618890
Hypotonia, Infantile, With Psychomotor Retardation	Cryptorchidism, Lateral ventricle dilatation	OMIM:616816
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618577
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Spastic tetraparesis, Cryptorchidism, Hydrocephalus, Obesity, Cerebral atrophy, Hypertonia	ORPHA:171839
Temple Syndrome	Cryptorchidism, Hydrocephalus, Small for gestational age, Obesity	ORPHA:254516
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Inability to walk, Hydrocephalus	OMIM:613155
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation, Small for gestational age	OMIM:619278
Central Precocious Puberty In Male	Hydrocephalus, Abnormality of the testis size	ORPHA:649929
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Rigidity, Hydrocephalus, Spastic tetraplegia, Neurodegeneration, Difficulty walking, Spas...	OMIM:618476
Coach Syndrome 2	Oculomotor apraxia, Hydrocephalus, Agenesis of corpus callosum	OMIM:619111
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:83473
Pontocerebellar Hypoplasia, Type 7	Ataxia, Cryptorchidism, Hydrocephalus, Spastic paraplegia, Cerebral atrophy, Opisthotonus, Choreo...	OMIM:614969
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Neurodegeneration, Gait ataxia	ORPHA:438134
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Inability to walk, Lateral ventricle dilatation, Ventriculomegaly	OMIM:613443
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Small for gestational age, Clonus, Cryptorchidism, Babinski sign, Spastic tetrapl...	OMIM:619847
Hogue-Janssen Syndrome 2	Inability to walk, Hydrocephalus, Gait ataxia, Agenesis of corpus callosum, Ventriculomegaly	OMIM:616362
Idiopathic Achalasia	Weight loss	ORPHA:930
Hemangioblastoma	Dysesthesia, Hydrocephalus	ORPHA:252054
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ataxia, Slender build, Cachexia, Weight loss	OMIM:613662
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Oromotor apraxia, Hemiparesis, Lateral ventricle dilatation, Agenesis of corp...	ORPHA:300573
Multiple Sulfatase Deficiency	Cerebellar atrophy, Ataxia, Hydrocephalus, Cerebral atrophy, Spasticity, Increased CSF protein co...	OMIM:272200
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Small for gestational age, Lateral ventricle dilatation, Hypertonia, My...	ORPHA:3078
Edinburgh Malformation Syndrome	Hypertonia, Hydrocephalus, Failure to thrive	ORPHA:1895
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:602501
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Spastic paraplegia, Obesity, Cerebral atrophy, Lateral v...	OMIM:617296
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Combined Oxidative Phosphorylation Defect Type 29	Poor coordination, Axonal degeneration, Increased CSF lactate, Subependymal cysts, Neurodegenerat...	ORPHA:478029
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Ataxia	ORPHA:1861
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly, Gait ataxia	OMIM:616355
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral...	OMIM:256600
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Adams-Oliver Syndrome 2	Cerebral atrophy, Hydrocephalus, Lateral ventricle dilatation, Limb hypertonia	OMIM:614219
Focal Facial Dermal Dysplasia Type Iv	Hemiparesis, Hydrocephalus	ORPHA:398189
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br...	OMIM:606159
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neu...	OMIM:300894
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Temple Syndrome	Small for gestational age, Overweight, Cryptorchidism, Hydrocephalus, Obesity, Truncal obesity, D...	OMIM:616222
Global Developmental Delay With Or Without Impaired Intellectual Development	Poor fine motor coordination, Lateral ventricle dilatation	OMIM:618330
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia, Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Agenesis of corpus callosum,...	OMIM:225790
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Amelocerebrohypohidrotic Syndrome	Hydrocephalus, Spasticity	ORPHA:1946
Arachnoiditis	Hydrocephalus, Paresthesia	ORPHA:137817
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus, Clumsiness	OMIM:300558
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation	OMIM:613153
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Cryptorchidism, Hydrocephalus, Hypertonia, Brain atrophy, Failure to thrive, Dandy-Walker malform...	OMIM:612938
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus, Small for gestational age, Gait disturbance	OMIM:613330
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:163961
Combined Oxidative Phosphorylation Defect Type 39	Lower limb spasticity, Involuntary movements, Corpus callosum atrophy, Cryptorchidism, Babinski s...	ORPHA:565624
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Oculomotor apraxia, Hydrocephalus, Obesity, Ventriculomegaly	OMIM:615630
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Failure to thrive in infancy, Spastic tetraparesis, Lateral ventricle dilatation, Hypertonia, Myo...	ORPHA:284417
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Cerebral atrophy, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:620156
Hsd10 Disease, Infantile Type	Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Spastic diplegia, Cerebral atr...	ORPHA:391428
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Cerebral palsy, Ataxia, Hydrocephalus, Colpocephaly, Failure to thrive, Ventriculomegaly	OMIM:619833
Giant Axonal Neuropathy 1, Autosomal Recessive	Spastic paraplegia, Abnormal pyramidal sign, Distal sensory impairment, Lateral ventricle dilatat...	OMIM:256850
Cerebral Visual Impairment	Cerebral palsy, Hydrocephalus, Clumsiness, Central nervous system degeneration, Neurodegeneration...	ORPHA:447788
Juvenile Amyotrophic Lateral Sclerosis	Lower limb spasticity, Amyotrophic lateral sclerosis, Ataxia, Clonus, Cachexia, Parkinsonism, Hea...	ORPHA:300605
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Ataxia, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait ataxia, Neurodegeneration, Myoclonus,...	OMIM:618321
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Lower limb hypertonia, Brain atrophy, Failure to thrive, Ventriculomegaly	ORPHA:2169
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
Greig Cephalopolysyndactyly Syndrome	Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:175700
Craniofacial Dyssynostosis With Short Stature	Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:218350
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Lateral ventricle dilatation, Partial agenesis of the corpus callosum, Spasticity	OMIM:619517
Pontocerebellar Hypoplasia, Type 13	Inability to walk, Gait ataxia, Lateral ventricle dilatation, Failure to thrive, Dandy-Walker mal...	OMIM:618606
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Pallidal degeneration, Ataxia, Poor motor coordination, Tremor, Rigi...	ORPHA:25
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Gait ataxia, Choreoathetosis, Spasticity, Dandy-Walker malfor...	OMIM:304340
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Inability to walk, Lateral ventricle dilatation, Involuntary movements	OMIM:615716
Craniosynostosis 6	Cerebellar atrophy, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callos...	OMIM:616602
Autosomal Recessive Spastic Paraplegia Type 11	Ataxia, Parkinsonism, Overweight, Inability to walk, Paraparesis, Atrophy of the spinal cord, Obe...	ORPHA:2822
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Oculopharyngodistal Myopathy	Paraplegia, Weight loss, Difficulty walking, Loss of ambulation, Vocal cord paresis	ORPHA:98897
Halperin-Birk Syndrome	Inability to walk, Spastic tetraplegia, Colpocephaly, Hypertonia, Pseudobulbar paralysis, Failure...	OMIM:618651
Joubert Syndrome 3	Oculomotor apraxia, Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Ataxia	OMIM:608629
Isolated Succinate-Coq Reductase Deficiency	Ataxia, Spastic tetraparesis, Babinski sign, Weight loss, Lower limb hypertonia, Spastic parapare...	ORPHA:3208
Tenorio Syndrome	Cerebral palsy, Hydrocephalus, Clumsiness, Gait disturbance, Cerebral cortical atrophy, Ventricul...	OMIM:616260
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:109120
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal...	OMIM:618736
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Facial-lingual fasciculations, Dysplastic corpus callosum, Hydrocep...	OMIM:617281
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss	ORPHA:178509
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Parkinsonism, Lateral ventricle dilatation, Apraxia, Neuronal loss in central nervous system, Cer...	OMIM:607485
Glutamine Deficiency, Congenital	Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation, Brain at...	OMIM:610015
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Clonus, Hydrocephalus, Abnormal pyramidal sign...	ORPHA:370959
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Adrenoleukodystrophy	Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Neurodegeneration, ...	OMIM:300100
Alg2-Cdg	Lateral ventricle dilatation	ORPHA:79326
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Riboflavin Transporter Deficiency	Ataxia, Cachexia, Tremor, Myoclonus, Cerebral cortical atrophy	ORPHA:97229
Joubert Syndrome With Renal Defect	Encephalocele, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Oculomotor apraxia, Agenesis of c...	ORPHA:220497
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus	OMIM:276950
Chronic Hiccup	Weight loss	ORPHA:396
Pyruvate Dehydrogenase E2 Deficiency	Speech apraxia, Broad-based gait, Babinski sign, Hypertonia, Gait disturbance, Neurodegeneration,...	ORPHA:79244
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Cerebral atrophy...	OMIM:610217
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Cerebellar atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Cer...	ORPHA:572798
Bilateral Generalized Polymicrogyria	Spastic tetraplegia, Eyelid myoclonus, Lateral ventricle dilatation, Spasticity, Paroxysmal dyski...	ORPHA:208447
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
B4Galt1-Cdg	Hydrocephalus, Small for gestational age, Dandy-Walker malformation	ORPHA:79332
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Failure to thrive, Ventriculomegaly	ORPHA:60040
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Vitamin K Antagonist Embryofetopathy	Hydrocephalus, Myelomeningocele	ORPHA:1914
Laryngeal Neuroendocrine Tumor	Weight loss	ORPHA:100083
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Cryptorchidism, Hydrocephalus	ORPHA:2701
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly	OMIM:618731
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus, Obesity	ORPHA:2180
Congenital Disorder Of Glycosylation, Type Iil	Cerebellar atrophy, Hydrocephalus, Cerebral atrophy, Failure to thrive, Ventriculomegaly	OMIM:614576
Griscelli Syndrome	Encephalocele, Hydrocephalus, Ataxia, Spasticity	ORPHA:381
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Classic Pantothenate Kinase-Associated Neurodegeneration	Inability to walk, Opisthotonus, Weight loss, Tip-toe gait, Gait disturbance, Spasticity, Frequen...	ORPHA:216866
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Paraplegia, Neural tube defect, Hypertonia, Upp...	ORPHA:268810
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Increased CSF lactate, Neurodegeneration, Spasticity, Neuronal loss in centra...	OMIM:616239
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia, Inability to walk, Cerebral atrophy, Hypertonia, Spastici...	OMIM:616801
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Intellectual Developmental Disorder, Autosomal Dominant 65	Agenesis of corpus callosum, Ataxia, Noncommunicating hydrocephalus, Clumsiness	OMIM:619320
Pelizaeus-Merzbacher Disease	Ataxia, Failure to thrive in infancy, Cachexia, Choreoathetosis, Gait disturbance, Spasticity, Ce...	ORPHA:702
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo...	OMIM:615219
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus	OMIM:241800
Malan Overgrowth Syndrome	Episodic ataxia, Lateral ventricle dilatation, Ventriculomegaly	ORPHA:420179
Erythrokeratodermia Variabilis	Abnormal testis morphology, Weight loss	ORPHA:317
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus, Failure to thrive	OMIM:620157
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation	OMIM:611134
Joubert Syndrome	Encephalocele, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Oculomotor apraxia	ORPHA:475
Aicardi-Goutieres Syndrome 9	Spastic tetraparesis, Spastic tetraplegia, Spastic diplegia, Weight loss, Cerebral atrophy, Later...	OMIM:619487
Thanatophoric Dysplasia	Hydrocephalus, Ventriculomegaly	ORPHA:2655
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus, Ataxia, Cachexia, Spasticity	ORPHA:220295
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ankle clonus, Lateral ventricle dilatation, Lower limb hypertonia, Frequent falls, Intention tremor	OMIM:619995
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ...	OMIM:613154
Medulloblastoma	Ataxia, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Cerebellar ataxia associated wit...	ORPHA:616
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Joubert Syndrome With Ocular Defect	Encephalocele, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Oculomotor apraxia, Agenesis of c...	ORPHA:220493
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Lateral ventricle dilatation, Extra-axial cerebrospinal fluid accumulation, Spina bifida occulta,...	OMIM:618291
Rhombencephalosynapsis	Hydrocephalus, Ataxia, Ventriculomegaly	ORPHA:59315
Fatal Familial Insomnia	Neuronal loss in central nervous system, Ataxia, Myoclonus, Weight loss	OMIM:600072
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Progressive spas...	ORPHA:309246
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Dural Sinus Malformation	Somatic sensory dysfunction, Ataxia, Parkinsonism, Myelopathy, Hydrocephalus, Poor coordination, ...	ORPHA:97339
Emanuel Syndrome	Dandy-Walker malformation, Torticollis, Cryptorchidism, Hydrocephalus, Cerebral atrophy, Failure ...	OMIM:609029
Peho Syndrome	Cerebellar atrophy, Hydrocephalus, Atrophy/Degeneration affecting the brainstem, Cerebral cortica...	ORPHA:2836
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Short stepped shuffling gait	OMIM:168605
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus, Cerebral atrophy, Decreased body weight	OMIM:614886
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Failure to thrive, Overweight, Cryptorchidism, Hydrocephalus, Gait disturbance, Dilated third ven...	ORPHA:500055
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C...	OMIM:272750
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly	ORPHA:1908
Mulibrey Nanism	Cachexia	ORPHA:2576
Congenital Muscular Dystrophy Due To Lmna Mutation	Gait disturbance, Cachexia	ORPHA:157973
Lhermitte-Duclos Disease	Hydrocephalus, Ataxia	ORPHA:65285
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:603387
Neurodegeneration With Brain Iron Accumulation 4	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Gait di...	OMIM:614298
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Broad-based gait, Ataxia, Impaired distal proprioception, Hypoesthesia, Impaired distal vibration...	OMIM:607459
Flynn-Aird Syndrome	Ataxia, Cerebral cortical atrophy, Cachexia, Impaired pain sensation	ORPHA:2047
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Alexander Disease	Ataxia, Clonus, Aqueductal stenosis, Tremor, Hydrocephalus, Chorea, Abnormal pyramidal sign, Tetr...	ORPHA:58
Slc35A2-Cdg	Cerebellar atrophy, Failure to thrive in infancy, Spastic tetraparesis, Inability to walk, Cerebr...	ORPHA:356961
Oculocerebrocutaneous Syndrome	Cryptorchidism, Hydrocephalus, Hemiplegia/hemiparesis, Dandy-Walker malformation, Ventriculomegaly	ORPHA:1647
Congenital Sialidosis Type 2	Ataxia, Hydrocephalus, Dysmetria, Myoclonus, Spasticity	ORPHA:93400
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Corpus callosum atrophy, Cryptorchidism, Cerebral atrophy, Lateral ventricle dilatation, Dilated ...	OMIM:619244
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Holoprosencephaly 14	Cerebellar atrophy, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Partial agenesi...	OMIM:619895
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Inability to walk, Hydrocephalus, Paraparesis, S...	ORPHA:2356
Bresek Syndrome	Cryptorchidism, Hydrocephalus, Decreased testicular size	ORPHA:85284
Cog5-Cdg	Cerebellar atrophy, Diffuse cerebral atrophy, Cryptorchidism, Atrophy/Degeneration affecting the ...	ORPHA:263487
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
X-Linked Intellectual Disability, Wilson Type	Hydrocele testis, Lateral ventricle dilatation	ORPHA:85290
Allergic Bronchopulmonary Aspergillosis	Cerebral cortical atrophy, Weight loss	ORPHA:1164
Joubert Syndrome 14	Encephalocele, Ataxia, Hydrocephalus, Meningocele, Dandy-Walker malformation	OMIM:614424
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, Hypertonia, Ataxia	ORPHA:2720
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Whipple Disease	Ataxia, Cachexia, Hydrocephalus, Abnormal pyramidal sign, Myoclonus	ORPHA:3452
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Myopathy, Centronuclear, X-Linked	Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Den Hoed-De Boer-Voisin Syndrome	Lower limb spasticity, Ataxia, Overweight, Tremor, Inability to walk, Obesity, Lateral ventricle ...	OMIM:619229
1Q44 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:238769
Gorlin Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:377
Gracile Bone Dysplasia	Hydrocephalus, Failure to thrive	OMIM:602361
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Ataxia, Hydrocephalus, Oculomotor apraxia, Failu...	OMIM:608091
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation	OMIM:600721
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:77298
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618619
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodegeneration, Spasticity	ORPHA:803
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus, Failure to thrive, Facial paralysis	OMIM:259700
Hydrolethalus	Anencephaly, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum	ORPHA:2189
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus, Ataxia	ORPHA:2318
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Dandy-Walker malformation	OMIM:220210
Moynahan Syndrome	Cachexia	ORPHA:2574
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Cryptorchidism	ORPHA:1237
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Cryptorchidism, Hydrocephalus, Gait disturbance, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:1812
Mcdonough Syndrome	Cryptorchidism, Cachexia	ORPHA:2471
Emanuel Syndrome	Dandy-Walker malformation, Cryptorchidism, Hydrocephalus, Cerebral atrophy, Failure to thrive, Ag...	ORPHA:96170
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Failure to thrive, Agenesis of corpus callosum	OMIM:612940
Rett Syndrome	Cachexia, Gait apraxia, Gait ataxia, Truncal ataxia, Spasticity, Cerebral cortical atrophy	OMIM:312750
Mitochondrial Neurogastrointestinal Encephalomyopathy	Increased CSF protein concentration, Paresthesia, Cachexia, Weight loss	ORPHA:298
Reticular Dysgenesis	Failure to thrive, Weight loss	ORPHA:33355
Hec Syndrome	Communicating hydrocephalus, Vaginal hydrocele	ORPHA:2119
Desmosterolosis	Rigidity, Hydrocephalus, Hypertonia, Spasticity, Failure to thrive, Agenesis of corpus callosum, ...	ORPHA:35107
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Rhabdoid Tumor	Hemiplegia, Cerebral palsy, Weight loss	ORPHA:69077
Desmosterolosis	Hydrocephalus, Partial agenesis of the corpus callosum, Spasticity, Failure to thrive, Ventriculo...	OMIM:602398
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Shuffling gait, Park...	ORPHA:411602
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Diabetic Embryopathy	Cryptorchidism, Hydrocephalus, Spinal dysraphism	ORPHA:1926
Triploidy	Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:3376
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Agenesis of corpus callosum	OMIM:615249
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Classic Hodgkin Lymphoma	Ataxia, Weight loss	ORPHA:391
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus, Facial paralysis	OMIM:259710
Alkuraya-Kucinskas Syndrome	Oculomotor apraxia, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:617822
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Cerebellar atrophy, Cerebral atrophy, Hydrocephalus, Spasticity	OMIM:618590
Osteootohepatoenteric Syndrome	Hydrocephalus, Failure to thrive, Weight loss	OMIM:619377
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
Infantile Krabbe Disease	Lower limb spasticity, Diffuse cerebral atrophy, Cachexia, Spastic diplegia, Opisthotonus, Ankle ...	ORPHA:206436
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus, Hemiparesis, Hypertonia, Failure to thrive	ORPHA:974
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid...	OMIM:234200
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Trisomy 1Q	Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:261344
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Torticollis, Inability to walk, Partial agenesis of the corpus callosum, Spastic ...	ORPHA:300570
Central Diabetes Insipidus	Failure to thrive, Weight loss	ORPHA:178029
Fanconi Anemia, Complementation Group I	Colpocephaly, Agenesis of corpus callosum, Decreased body weight	OMIM:609053
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis, Weight loss	OMIM:613239
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Athetosis, Hydrocephalus, Cerebral cortical atrophy	OMIM:239300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly	OMIM:616538
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ataxia, Clonus, Poor coordination, Spastic tetraplegia, Spastic diplegia, Gait ataxia, Cerebral a...	OMIM:616878
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
47,Xyy Syndrome	Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoospermia, Macroorchidism	ORPHA:8
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Xfe Progeroid Syndrome	Cachexia, Poor coordination, Failure to thrive, Ventriculomegaly	OMIM:610965
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:459061
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Hypertonia, Cachexia	ORPHA:1389
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:617751
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lateral ventricle dilatation, Hypertonia, Cerebral palsy	OMIM:618914
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Ataxia, Cerebral atrophy	OMIM:616084
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate	ORPHA:90065
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
X-Linked Creatine Transporter Deficiency	Ataxia, Cachexia, Chorea, Athetosis, Hypertonia	ORPHA:52503
Liposarcoma	Paresthesia, Weight loss	ORPHA:69078
Thanatophoric Dysplasia Type 1	Hydrocephalus, Ventriculomegaly	ORPHA:1860
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocele testis, Hydrocephalus, Brain atrophy, Ventriculomegaly	OMIM:613603
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation, Parietal cortical atrophy	OMIM:620075
Fg Syndrome Type 1	Broad-based gait, Cryptorchidism, Hydrocephalus, Slender build, Ventriculomegaly	ORPHA:93932
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Cerebellar atrophy, Large for gestational age, Gait ataxia, Cerebral...	OMIM:617011
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:612863
Rabin-Pappas Syndrome	Hydrocephalus, Failure to thrive in infancy, Obesity	OMIM:620155
Walker-Warburg Syndrome	Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Ventriculo...	ORPHA:899
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Tremor, Hydrocephalus, Abnormality of extrapyramidal motor function, Failure to thrive, Cerebral ...	OMIM:277400
Follicular Lymphoma	Weight loss	ORPHA:545
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Oculomotor apraxia	ORPHA:1454
Czeizel-Losonci Syndrome	Hydrocephalus, Spina bifida occulta, Myelomeningocele, Spina bifida	ORPHA:2437
Pelvis-Shoulder Dysplasia	Waddling gait, Hydrocephalus, Hydranencephaly, Spina bifida	ORPHA:2839
Mirage Syndrome	Cryptorchidism, Hydrocephalus, Paraplegia, Decreased body weight, Decreased testicular size	OMIM:617053
Mosaic Variegated Aneuploidy Syndrome 1	Small for gestational age, Cryptorchidism, Hydrocephalus, Tetraplegia, Dandy-Walker malformation,...	OMIM:257300
Osteopetrosis, Autosomal Recessive 5	Clonus, Hydrocephalus, Spastic tetraplegia, Cerebral atrophy, Hypertonia, Ventriculomegaly, Limb ...	OMIM:259720
Non-Functioning Paraganglioma	Tremor, Vocal cord paralysis, Weight loss	ORPHA:94080
Pleural Mesothelioma	Weight loss	ORPHA:50251
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Cerebral cortical atrophy	ORPHA:1834
Thymic Carcinoma	Diaphragmatic paralysis, Weight loss	ORPHA:99868
Achondroplasia	Hydrocephalus, Obesity	ORPHA:15
Axenfeld-Rieger Syndrome, Type 2	Cryptorchidism, Hydrocephalus	OMIM:601499
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:612582
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Periodic paralysis, Weight loss	OMIM:188580
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation, Cerebral palsy, Poor gross motor coordination	ORPHA:2148
Trisomy 17P	Hydrocephalus, Hypertonia	ORPHA:261290
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss	OMIM:143880
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
3C Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:7
Desmoplastic Small Round Cell Tumor	Cachexia, Testicular neoplasm, Weight loss	ORPHA:83469
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Lateral ventricle dilatation	OMIM:614105
Mucopolysaccharidosis, Type Ii	Hydrocephalus, Neurodegeneration	OMIM:309900
Holocarboxylase Synthetase Deficiency	Ataxia, Weight loss	ORPHA:79242
Lowry-Maclean Syndrome	Bilateral cryptorchidism, Hydrocephalus, Hemiparesis	ORPHA:2409
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Gm1 Gangliosidosis	Ataxia, Tremor, Unsteady gait, Weight loss, Gait disturbance, Decerebrate rigidity, Abnormality o...	ORPHA:354
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Exaggerated startle response, Hydrocephalus, Holoprosencephaly, Agenesis of corpus...	OMIM:253800
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Chorea, Ventriculomegaly, Spasticity	ORPHA:1855
Neuropathy, Congenital Hypomyelinating, 3	Cerebellar atrophy, Spasticity, Babinski sign, Cachexia	OMIM:618186
Tetrasomy 5P	Hydrocephalus, Failure to thrive	ORPHA:3309
Wilson Disease	Increased body weight, Clumsiness, Weight loss, Difficulty walking, Failure to thrive	ORPHA:905
Fanconi Anemia, Complementation Group B	Hydrocephalus, Ventriculomegaly	OMIM:300514
Renpenning Syndrome	Decreased testicular size, Cachexia	ORPHA:3242
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Dandy-Walker malformation, Failure to thrive, Meningocele, Colpocephaly,...	ORPHA:397715
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration	OMIM:146500
Distal Deletion 10Q	Ataxia, Clonus, Unsteady gait, Spina bifida occulta, Poor fine motor coordination, Lateral ventri...	ORPHA:96148
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Ataxia, Spastic paraplegia, Hypertonia, Hypoglycorrhachia	ORPHA:168577
Pseudo-Torch Syndrome 2	Lateral ventricle dilatation, Ventriculomegaly	OMIM:617397
Focal Myositis	Weight loss	ORPHA:48918
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Overweight, Dilated third ventricle, Hydrocephalus, Lateral ventricle dilatation, Failure to thrive	OMIM:619575
Eosinophilic Fasciitis	Paresthesia, Weight loss	ORPHA:3165
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Choreoacanthocytosis	Impaired vibratory sensation, Resting tremor, Self-mutilation of tongue and lips due to involunta...	ORPHA:2388
Pfapa Syndrome	Weight loss	ORPHA:42642
Distal Triplication 15Q	Hydrocele testis, Hydrocephalus, Dandy-Walker malformation, Large for gestational age	ORPHA:314588
Monosomy 18Q	Bilateral cryptorchidism, Hydrocephalus, Poor coordination, Choreoathetosis, Failure to thrive, S...	ORPHA:1600
Genitopalatocardiac Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:2075
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal...	OMIM:615287
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Hydrocephalus, Partial agenesis of the corpus callosum, Dandy-Walker malformation,...	OMIM:614643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:613150
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:613001
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Ataxia, Myoclonus, Weight loss	OMIM:256700
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Weight loss	ORPHA:1842
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Oromandibular Dystonia	Blepharospasm, Torticollis, Hyperkinetic movements, Weight loss	ORPHA:93958
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Congenital Disorder Of Glycosylation, Type Iig	Cerebellar atrophy, Failure to thrive in infancy, Cryptorchidism, Cerebral atrophy, Lateral ventr...	OMIM:611209
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Unsteady gait, Ataxia, Neurodegeneration	OMIM:615919
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Spondylocostal Dysostosis 4, Autosomal Recessive	Hydrocephalus, Spina bifida occulta, Myelomeningocele	OMIM:613686
Chromosome 17P13.1 Deletion Syndrome	Diffuse cerebral atrophy, Spina bifida, Hydrocephalus, Hydrocele testis, Ankle clonus	OMIM:613776
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus	ORPHA:2969
Primary Ciliary Dyskinesia	Hydrocephalus, Ventriculomegaly	ORPHA:244
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum	ORPHA:3301
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum	OMIM:300952
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus	OMIM:314390
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Cryptorchidism, Hydrocephalus	OMIM:619951
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Pain insensitivity, Hydrocephalus, Cerebral cortical atrophy, Distal sensory impairment	OMIM:616007
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Ataxia, Cachexia	ORPHA:42
Multiple Sulfatase Deficiency	Hydrocephalus	ORPHA:585
Congenital Myopathy 22A, Classic	Waddling gait, Frequent falls, Normal pressure hydrocephalus	OMIM:620351
Pseudotrisomy 13 Syndrome	Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum	OMIM:264480
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Large for gestational age, Bilateral cryptorchidism, Dysplastic corpus callosum, Lateral ventricl...	ORPHA:544488
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Parkinson Disease 4, Autosomal Dominant	Parkinsonism, Weight loss	OMIM:605543
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Hydrocephalus, Oligozoospermia	ORPHA:91348
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Atrophy of the spinal cord, Hydrocephalus, Cerebral atrophy, Poor fine motor coordination...	ORPHA:79282
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Cryptorchidism, Hydrocephalus	ORPHA:1865
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Clonus, Hypertonia, Intention tremor, Ataxia, Overweight, Obesity, Torticollis, Isometric tremor,...	OMIM:619475
Anaplastic Thyroid Carcinoma	Vocal cord paralysis, Weight loss	ORPHA:142
Hurler Syndrome	Hydrocephalus, Neurodegeneration	OMIM:607014
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Gait disturbance, Cachexia	ORPHA:2774
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Colpocephaly, Partial agenesis of the corpus callosum, Agenesis of corpus callosum	OMIM:620113
Mucopolysaccharidosis, Type Vii	Hydrocephalus, Neurodegeneration	OMIM:253220
Mucopolysaccharidosis Type 3	Vocal cord paresis, Ataxia, Hydrocephalus, Abnormal pyramidal sign, Central nervous system degene...	ORPHA:581
Cardiofaciocutaneous Syndrome 1	Hydrocephalus, Hypertonia, Oculomotor apraxia, Failure to thrive, Cerebral cortical atrophy	OMIM:115150
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Ataxia, Inability to walk, Cryptorchidism, Colpocephaly, Failure to thrive	OMIM:620083
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Broad-based gait, Cachexia, Paralysis, Hydrocephalus, Spastic paraplegia, Limb ataxia, Azoospermi...	ORPHA:2072
Immunodeficiency 27A	Weight loss	OMIM:209950
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Large for gestational age, Gait ataxia, Difficulty walking, Slender ...	ORPHA:457359
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Hyperesthesia, Spastic tetraplegia, Cachexia	ORPHA:371364
1Q21.1 Microdeletion Syndrome	Cryptorchidism, Hydrocephalus, Failure to thrive, Agenesis of corpus callosum	ORPHA:250989
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Takayasu Arteritis	Weight loss	ORPHA:3287
Familial Glucocorticoid Deficiency	Cryptorchidism, Testicular adrenal rest tumor, Tetraplegia, Weight loss, Azoospermia, Leydig cell...	ORPHA:361
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Absent outer dynein arms	OMIM:244400
16Q24.3 Microdeletion Syndrome	Cryptorchidism, Colpocephaly, Ventriculomegaly	ORPHA:261250
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Apert Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:87
Iniencephaly	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Endocrine-Cerebroosteodysplasia	Cryptorchidism, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:612651
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cerebellar atrophy, Small for gestational age, Cryptorchidism, Athetosis, Colpocephaly, Failure t...	OMIM:614866
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Lateral ventricle dilatation, Unsteady gait, Ataxia	ORPHA:457279
Sturge-Weber Syndrome	Hydrocephalus, Cerebral cortical atrophy	ORPHA:3205
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly	ORPHA:1335
Basel-Vanagaite-Smirin-Yosef Syndrome	Inability to walk, Cerebral atrophy, Lateral ventricle dilatation, Difficulty walking, Spasticity...	ORPHA:464738
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Occipital meningocele, Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:616546
15Q Overgrowth Syndrome	Hydrocephalus, Agenesis of corpus callosum, Brain atrophy, Dandy-Walker malformation	ORPHA:314585
Jacobsen Syndrome	Cryptorchidism, Hydrocephalus, Holoprosencephaly, Spasticity, Failure to thrive	OMIM:147791
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617260
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus	OMIM:616914
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:1555
Osteosarcoma	Weight loss	ORPHA:668
Laurin-Sandrow Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:2378
Sacral Defect With Anterior Meningocele	Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract	OMIM:600145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Cryptorchidism, Hydrocephalus, Meningoencephalocele, Dandy-Walker malfor...	OMIM:236670
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
X-Linked Agammaglobulinemia	Failure to thrive, Weight loss	ORPHA:47
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:123790
Monosomy 9Q22.3	Hydrocephalus, Ventriculomegaly, Large for gestational age	ORPHA:77301
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hydrocephalus	OMIM:616482
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Cap Polyposis	Weight loss	ORPHA:160148
Lateral Meningocele Syndrome	Cryptorchidism, Hydrocephalus, Meningocele	OMIM:130720
Acrodysostosis 1 With Or Without Hormone Resistance	Cryptorchidism, Hydrocephalus, Small for gestational age	OMIM:101800
Khan-Khan-Katsanis Syndrome	Hypertonia, Colpocephaly, Failure to thrive, Ventriculomegaly	OMIM:618460
Bullous Pemphigoid	Weight loss	ORPHA:703
Cardiofaciocutaneous Syndrome	Cryptorchidism, Hydrocephalus, Failure to thrive in infancy, Cerebral cortical atrophy	ORPHA:1340
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus	OMIM:207410
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:228308
Eosinophilic Granulomatosis With Polyangiitis	Central nervous system degeneration, Hemiplegia/hemiparesis, Gait disturbance, Weight loss	ORPHA:183
7Q11.23 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Unsteady gait, Obesity, Dysmetria, Ventriculomegaly	ORPHA:96121
Hurler Syndrome	Hydrocephalus, Cerebral palsy, Abnormal pyramidal sign, Spastic paraparesis	ORPHA:93473
Weaver Syndrome	Cryptorchidism, Slurred speech, Hydrocele testis, Poor fine motor coordination, Lateral ventricle...	OMIM:277590
Kaposi Sarcoma	Weight loss	ORPHA:33276
Chronic Beryllium Disease	Weight loss	ORPHA:133
Vacterl With Hydrocephalus	Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Spina bifida	ORPHA:3412
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormal testis morphology, Weight loss	ORPHA:54251
Leishmaniasis	Weight loss	ORPHA:507
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Cerebellar atrophy, Exaggerated startle response, Lateral ventricle dilatation, Hypertonia, Spast...	OMIM:618367
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus	OMIM:104350
Beta-Ketothiolase Deficiency	Spasticity, Ataxia, Extrapyramidal dyskinesia, Weight loss	ORPHA:134
6Q Terminal Deletion Syndrome	Obesity, Dysmetria, Gait ataxia, Colpocephaly, Failure to thrive	ORPHA:75857
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Mucopolysaccharidosis Type 1	Hemiplegia/hemiparesis, Hydrocephalus, Paresthesia	ORPHA:579
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Mend Syndrome	Cryptorchidism, Hydrocephalus, Hypertonia, Failure to thrive, Dandy-Walker malformation	OMIM:300960
Mend Syndrome	Cryptorchidism, Hydrocephalus, Failure to thrive, Dandy-Walker malformation, Limb hypertonia	ORPHA:401973
Marshall-Smith Syndrome	Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Cerebral atrophy, Hypertonia, Decreased ...	OMIM:602535
Kabuki Syndrome	Cryptorchidism, Hydrocephalus, Obesity, Failure to thrive, Cerebral cortical atrophy, Ventriculom...	ORPHA:2322
Full Nf2-Related Schwannomatosis	Somatic sensory dysfunction, Myelopathy, Hydrocephalus, Unsteady gait, Hemiparesis, Hyperesthesia	ORPHA:637
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Cachexia, Tremor, Obesity, Decreased testicular size	ORPHA:85293
Dextrocardia	Hydrocephalus	ORPHA:1666
Otopalatodigital Syndrome Type 2	Encephalocele, Hydrocephalus, Failure to thrive, Myelomeningocele	ORPHA:90652
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus, Agenesis of corpus callosum	ORPHA:157
Gabriele-De Vries Syndrome	Waddling gait, Tremor, Cryptorchidism, Lateral ventricle dilatation, Tip-toe gait	OMIM:617557
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Cerebrooculonasal Syndrome	Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:605627
Keppen-Lubinsky Syndrome	Spastic tetraparesis, Opisthotonus, Lateral ventricle dilatation, Hypertonia, Failure to thrive	OMIM:614098
African Trypanosomiasis	Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements, Akinesia, Pa...	ORPHA:3385
Holoprosencephaly	Encephalocele, Failure to thrive in infancy, Cryptorchidism, Hydrocephalus, Chorea, Spinal dysrap...	ORPHA:2162
Majeed Syndrome	Failure to thrive, Cachexia, Weight loss	ORPHA:77297
Bainbridge-Ropers Syndrome	Cryptorchidism, Inability to walk, Lateral ventricle dilatation, Hypertonia, Failure to thrive	OMIM:615485
Deafness-Lymphedema-Leukemia Syndrome	Weight loss	ORPHA:3226
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Fail...	OMIM:619512
Lynch Syndrome	Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Hypertonia, Gait disturbance, Pares...	ORPHA:144
Polyarteritis Nodosa	Weight loss	ORPHA:767
19Q13.11 Microdeletion Syndrome	Cryptorchidism, Failure to thrive, Cachexia	ORPHA:217346
Ring Chromosome 10 Syndrome	Cachexia	ORPHA:1438
Polymyositis	Gait disturbance, Weight loss	ORPHA:732
Cockayne Syndrome A	Cerebellar atrophy, Ataxia, Tremor, Cryptorchidism, Cerebral atrophy, Normal pressure hydrocephal...	OMIM:216400
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Lateral ventricle dilatation, Choroid plexus cyst	ORPHA:293725
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Inability to walk, Hydrocephalus, Brain atrophy	ORPHA:505248
Tetrasomy 12P	Cachexia	ORPHA:884
Celiac Disease, Susceptibility To, 1	Failure to thrive, Ataxia, Weight loss	OMIM:212750
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Agenesis of corpus callosum, Colpocephaly	OMIM:309801
Familial Colorectal Cancer Type X	Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Hypertonia, Gait disturbance, Pares...	ORPHA:440437
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Stromme Syndrome	Hydrocephalus, Agenesis of corpus callosum	OMIM:243605
Neurooculorenal Syndrome	Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Agen...	OMIM:620305
8P23.1 Microdeletion Syndrome	Cryptorchidism, Obesity, Weight loss	ORPHA:251071
Histiocytoid Cardiomyopathy	Hemiplegia, Hydrocephalus, Failure to thrive, Agenesis of corpus callosum	ORPHA:137675
Mohr Syndrome	Hydrocephalus	OMIM:252100
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Lobar holoprose...	OMIM:610828
Opitz-Kaveggia Syndrome	Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Spasticity	OMIM:305450
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:457284
Glossopharyngeal Neuralgia	Dysesthesia, Vocal cord paralysis, Weight loss	ORPHA:221098
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Weight loss	ORPHA:171876
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Cryptorchidism, Failure to thrive, Ventriculomegaly	ORPHA:2462
Achondroplasia	Hydrocephalus	OMIM:100800
Aymé-Gripp Syndrome	Cryptorchidism, Hydrocephalus, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:1272
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Agenesis of corpus callosum	ORPHA:268249
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Decreased testicular size	ORPHA:813
Chediak-Higashi Syndrome	Tremor, Ataxia, Gait disturbance, Neurodegeneration	OMIM:214500
Thakker-Donnai Syndrome	Communicating hydrocephalus, Agenesis of corpus callosum	ORPHA:1780
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus	OMIM:618162
Cronkhite-Canada Syndrome	Cachexia	ORPHA:2930
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Cerebellar atrophy, Ataxia, Spastic paraplegia, Clumsiness, Subcorti...	ORPHA:309282
Oculopharyngodistal Myopathy 1	Ataxia, Tremor, Weight loss, Brain atrophy, Difficulty walking	OMIM:164310
Giant Cell Arteritis	Ataxia, Paresthesia, Weight loss	ORPHA:397
3-Hydroxy-3-Methylglutaric Aciduria	Ataxia, Spastic hemiparesis, Weight loss, Myoclonus, Spasticity	ORPHA:20
Sporadic Pheochromocytoma/Secreting Paraganglioma	Tremor, Vocal cord paralysis, Weight loss	ORPHA:276621
Fraser Syndrome 3	Hydrocephalus	OMIM:617667
Secondary Short Bowel Syndrome	Failure to thrive, Weight loss	ORPHA:95427
H Syndrome	Azoospermia, Hydrocephalus, Decreased testicular size	ORPHA:168569
Cryptogenic Organizing Pneumonia	Weight loss	ORPHA:1302
Apert Syndrome	Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:101200
Yao Syndrome	Weight loss	OMIM:617321
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly	ORPHA:2166
Noonan Syndrome 14	Cryptorchidism, Lateral ventricle dilatation	OMIM:619745
Symptomatic Form Of Hfe-Related Hemochromatosis	Testicular atrophy, Weight loss	ORPHA:465508
Nephroblastoma	Weight loss	ORPHA:654
Craniopharyngioma	Hydrocephalus, Obesity	ORPHA:54595
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Ventriculomegaly	OMIM:618188
Pemphigus Vulgaris	Weight loss	ORPHA:704
Fanconi Anemia, Complementation Group D2	Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Small for gestational age	OMIM:227646
Cockayne Syndrome B	Small for gestational age, Ataxia, Tremor, Cryptorchidism, Cerebral atrophy, Normal pressure hydr...	OMIM:133540
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Alobar Holoprosencephaly	Abnormal central motor function, Inability to walk, Hydrocephalus, Oromotor apraxia, Neural tube ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormal central motor function, Inability to walk, Hydrocephalus, Oromotor apraxia, Neural tube ...	ORPHA:93926
Lobar Holoprosencephaly	Abnormal central motor function, Inability to walk, Hydrocephalus, Oromotor apraxia, Neural tube ...	ORPHA:93924
Semilobar Holoprosencephaly	Abnormal central motor function, Inability to walk, Hydrocephalus, Oromotor apraxia, Neural tube ...	ORPHA:220386
Meningioma	Hemifacial spasm, Abnormal central motor function, Ataxia, Hydrocephalus, Obesity, Hemiparesis, D...	ORPHA:2495
Hereditary Amyloidosis With Primary Renal Involvement	Weight loss, Primary testicular failure, Abnormal testis morphology, Oligozoospermia	ORPHA:85450
Idiopathic Chronic Eosinophilic Pneumonia	Weight loss	ORPHA:2902
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Clonus, Cryptorchidism, Colpocephaly, Lower limb hypertonia, Oculomotor apraxia	ORPHA:477993
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus, Decreased testicular size, Abdominal obesity, Cerebellar cortical atrophy	OMIM:619321
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Hand tremor, Weight loss	ORPHA:424
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Short-Rib Thoracic Dysplasia 12	Hydrocephalus, Anencephaly, Holoprosencephaly	OMIM:269860
Cousin Syndrome	Hydranencephaly, Hydrocephalus	OMIM:260660
Wild Type Attr Amyloidosis	Weight loss	ORPHA:330001
Acrodermatitis Enteropathica	Failure to thrive, Cerebral cortical atrophy, Weight loss	ORPHA:37
Gaucher Disease	Ataxia, Tremor, Hemiplegia/hemiparesis, Hydrocephalus, Abnormality of extrapyramidal motor functi...	ORPHA:355
Cryptococcosis	Hydrocephalus, Cerebral cortical atrophy	ORPHA:1546
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Peripheral Primitive Neuroectodermal Tumor	Torticollis, Somatic sensory dysfunction, Weight loss	ORPHA:370348
Isotretinoin-Like Syndrome	Hydrocephalus	ORPHA:2306
Smith-Lemli-Opitz Syndrome	Cerebellar atrophy, Diffuse cerebral atrophy, Cryptorchidism, Hydrocephalus, Partial agenesis of ...	OMIM:270400
Shprintzen-Goldberg Craniosynostosis Syndrome	Cryptorchidism, Hydrocephalus	OMIM:182212
Loeffler Endocarditis	Weight loss	ORPHA:75566
Osteopathia Striata With Cranial Sclerosis	Hydrocephalus, Failure to thrive, Spina bifida occulta, Partial agenesis of the corpus callosum	OMIM:300373
Aggressive Systemic Mastocytosis	Weight loss	ORPHA:98850
Eosinophilic Gastroenteritis	Weight loss	ORPHA:2070
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Hypoesthesia, Distal sensory impairment, Weight loss, Slender build	OMIM:603041
Holoprosencephaly 13, X-Linked	Colpocephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly	OMIM:301043
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Lateral ventricle dilatation, Failure to thrive, Small for gestational age	OMIM:619869
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hydrocephalus	OMIM:245600
Igg4-Related Aortitis	Weight loss	ORPHA:449400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Lower limb spasticity, Large for gestational age, Lateral ventricle dilatation, Upper limb spasti...	OMIM:300868
Congenital Tufting Enteropathy	Failure to thrive, Weight loss	ORPHA:92050
Riddle Syndrome	Ataxia, Clumsiness, Weight loss, Gait disturbance, Poor hand-eye coordination	ORPHA:420741
Rheumatoid Arthritis	Weight loss	OMIM:180300
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Koolen-De Vries Syndrome Due To A Point Mutation	Speech apraxia, Small for gestational age, Testicular neoplasm, Spina bifida, Cryptorchidism, Hyd...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Speech apraxia, Small for gestational age, Testicular neoplasm, Spina bifida, Cryptorchidism, Hyd...	ORPHA:363958
Trisomy 18	Spina bifida, Cachexia, Cryptorchidism, Anencephaly, Hypertonia, Holoprosencephaly	ORPHA:3380
Ménétrier Disease	Weight loss	ORPHA:2494
Aredyld Syndrome	Cachexia	ORPHA:1133
Medullary Thyroid Carcinoma	Weight loss	ORPHA:1332
Laryngotracheoesophageal Cleft Type 4	Cachexia	ORPHA:93941
Orofaciodigital Syndrome I	Hydrocephalus, Myelomeningocele, Agenesis of corpus callosum, Cerebral atrophy	OMIM:311200
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Lower limb spasticity, Spastic tetraparesis, Tetraplegia, Weight loss, Cerebr...	OMIM:615846
Cystic Echinococcosis	Abnormality of the testis size, Weight loss	ORPHA:400
Osteogenesis Imperfecta	Somatic sensory dysfunction, Small for gestational age, Ataxia, Hydrocephalus, Noncommunicating h...	ORPHA:666
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Felty Syndrome	Weight loss	ORPHA:47612
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Paresthesia, Cachexia	OMIM:175500
Wolman Disease	Cachexia	ORPHA:75233
Marden-Walker Syndrome	Hydrocephalus, Failure to thrive, Agenesis of corpus callosum	ORPHA:2461
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
Short Syndrome	Weight loss	ORPHA:3163
Coccidioidomycosis	CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Abnormal sperm morphology, Hypoglyc...	ORPHA:228123
Acute Monoblastic/Monocytic Leukemia	Weight loss	ORPHA:514
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Weight loss	ORPHA:324964
Thyrotoxic Periodic Paralysis	Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic...	ORPHA:79102
Fanconi Anemia	Spina bifida, Cryptorchidism, Hydrocephalus, Weight loss, Azoospermia, Abnormal testis morphology...	ORPHA:84
Poems Syndrome	Paresthesia, Hyperesthesia, Weight loss	ORPHA:2905
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida	OMIM:109400
Hajdu-Cheney Syndrome	Cryptorchidism, Hydrocephalus, Failure to thrive	OMIM:102500
Raine Syndrome	Hydrocephalus	OMIM:259775
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hydrocephalus, Torticollis	ORPHA:536467
Refractory Celiac Disease	Weight loss	ORPHA:398063
Dubowitz Syndrome	Cryptorchidism, Hydrocephalus, Spina bifida occulta	ORPHA:235
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Systemic Capillary Leak Syndrome	Weight loss	ORPHA:188
Hereditary Pheochromocytoma-Paraganglioma	Tremor, Vocal cord paralysis, Weight loss	ORPHA:29072
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Pneumocystosis	Weight loss	ORPHA:723
Thymic Neuroendocrine Tumor	Weight loss	ORPHA:97289
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Cryptorchidism, Hydrocephalus, Anencephaly, Da...	OMIM:249000
Meckel Syndrome	Encephalocele, Cryptorchidism, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker ...	ORPHA:564
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Lateral ventricle dilatation, Ventriculomegaly	OMIM:619479
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hydrocephalus	OMIM:253200
Fanconi Anemia, Complementation Group L	Hydrocephalus	OMIM:614083
Cockayne Syndrome	Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Cachexia, Action tremor, Cryptorchidism,...	ORPHA:191
Familial Gestational Hyperthyroidism	Hand tremor, Weight loss	ORPHA:99819
Imerslund-Gräsbeck Syndrome	Failure to thrive, Weight loss	ORPHA:35858
Trisomy 8P	Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:264450
Simple Cryoglobulinemia	Paresthesia, Spontaneous pain sensation, Weight loss	ORPHA:91139
Acute Promyelocytic Leukemia	Weight loss	ORPHA:520
Genitourinary And/Or Brain Malformation Syndrome	Cryptorchidism, Dysplastic corpus callosum, Colpocephaly, Holoprosencephaly, Agenesis of corpus c...	OMIM:618820
Holoprosencephaly 9	Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Holoprosencephaly	OMIM:610829
Isolated Permanent Neonatal Diabetes Mellitus	Apraxia, Failure to thrive, Ataxia, Weight loss	ORPHA:99885
Lymphoid Interstitial Pneumonia	Failure to thrive, Weight loss	ORPHA:79128
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebellar atrophy, Hydrocephalus, Babinski sign, Hemiparesis, Tetraparesis, Hemiplegia, Spastici...	OMIM:175780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Myoclonus, Ventriculomegaly, Spasticity	OMIM:253280
Costello Syndrome	Cerebral atrophy, Hydrocephalus, Failure to thrive, Ventriculomegaly	OMIM:218040
Microphthalmia With Limb Anomalies	Cryptorchidism, Hydrocephalus, Failure to thrive	ORPHA:1106
Adrenocortical Carcinoma	Increased body weight, Weight loss	ORPHA:1501
Primary Myelofibrosis	Cachexia	ORPHA:824
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Bilateral cryptorchidism, Hydrocephalus, Gait disturbance	ORPHA:3042
Aicardi Syndrome	Spina bifida, Partial agenesis of the corpus callosum, Choroid plexus cyst, Lateral ventricle dil...	OMIM:304050
Solitary Fibrous Tumor	Weight loss	ORPHA:2126
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Hydrocephalus, Failure to thrive, Myelomeningocele	OMIM:306955
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:163979
Alveolar Echinococcosis	Hemiparesis, Ataxia, Weight loss	ORPHA:284
Malignant Atrophic Papulosis	Pain insensitivity, Weight loss	ORPHA:679
Behçet Disease	Ataxia, Orchitis, Abnormal pyramidal sign, Weight loss, Hemiparesis, Gait disturbance, Paresthesia	ORPHA:117
Hajdu-Cheney Syndrome	Hydrocephalus, Failure to thrive	ORPHA:955
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus	OMIM:261740
Primary Intestinal Lymphangiectasia	Weight loss	ORPHA:90362
Limb Body Wall Complex	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta	ORPHA:2369
Drug Reaction With Eosinophilia And Systemic Symptoms	Weight loss	ORPHA:139402
Neuroendocrine Tumor Of The Colon	Weight loss	ORPHA:100080
Pyomyositis	Weight loss, Testicular teratoma	ORPHA:764
Autosomal Recessive Malignant Osteopetrosis	Tremor, Hydrocephalus	ORPHA:667
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Hemiplegia, Cachexia	ORPHA:3217
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Lateral ventricle dilatat...	OMIM:210710
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Hydrocephalus	OMIM:154400
Bronchial Neuroendocrine Tumor	Weight loss	ORPHA:97287
Late-Onset Isolated Acth Deficiency	Failure to thrive, Weight loss	ORPHA:199299
Familial Thrombocytosis	Paresthesia, Weight loss	ORPHA:71493
Wiedemann-Rautenstrauch Syndrome	Small for gestational age, Cryptorchidism, Hydrocephalus, Hypertonia, Truncal ataxia, Failure to ...	OMIM:264090
Lenz-Majewski Hyperostotic Dwarfism	Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum	ORPHA:2658
22Q11.2 Deletion Syndrome	Spina bifida, Cryptorchidism, Hydrocephalus, Meningocele, Obesity, Occipital myelomeningocele, Fa...	ORPHA:567
Thymoma	Weight loss	ORPHA:99867
Neurofibromatosis Type 1	Cryptorchidism, Hydrocephalus, Ataxia, Paresthesia	ORPHA:636
Erdheim-Chester Disease	Ataxia, Weight loss	ORPHA:35687
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Neuroendocrine Tumor Of The Rectum	Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Weight loss	ORPHA:100082
Campomelic Dysplasia	Hydrocephalus, Failure to thrive, Spina bifida, Spinal dysraphism	OMIM:114290
Fetal Akinesia Deformation Sequence 1	Cryptorchidism, Hydrocephalus, Small for gestational age	OMIM:208150
Primary Hepatic Neuroendocrine Carcinoma	Weight loss	ORPHA:100085
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Cryptorchidism, Hydrocephalus, Oligozoospermia	ORPHA:95699
Klatskin Tumor	Weight loss	ORPHA:99978
Lymphangioleiomyomatosis	Hydrocephalus	ORPHA:538
Schwartz-Jampel Syndrome	Cachexia, Blepharospasm, Hypertonia, Gait disturbance, Decreased body weight, Testicular torsion,...	ORPHA:800
Igg4-Related Retroperitoneal Fibrosis	Hydrocele testis, Weight loss	ORPHA:49041
Wolf-Hirschhorn Syndrome	Small for gestational age, Cryptorchidism, Hydrocephalus, Failure to thrive, Agenesis of corpus c...	OMIM:194190
Split Cord Malformation	Paraparesis, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Meningocele, Cervical spina b...	ORPHA:573278
Microphthalmia With Linear Skin Defects Syndrome	Failure to thrive, Hydrocephalus, Abnormal testis morphology, Agenesis of corpus callosum	ORPHA:2556
Distal 22Q11.2 Microduplication Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:261337
Al Amyloidosis	Weight loss	ORPHA:85443
Yunis-Varon Syndrome	Cryptorchidism, Hydrocephalus, Severe failure to thrive, Neuronal loss in central nervous system,...	ORPHA:3472
Wiedemann-Rautenstrauch Syndrome	Ataxia, Action tremor, Tremor, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Hypert...	ORPHA:3455
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss	ORPHA:2298
Pseudoaminopterin Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:221120
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Weight loss	ORPHA:1018
Amoebiasis Due To Entamoeba Histolytica	Weight loss	ORPHA:67
Systemic Mastocytosis With Associated Hematologic Neoplasm	Weight loss	ORPHA:98849
Tetraamelia Syndrome 1	Hydrocephalus	OMIM:273395
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Polycythemia Vera	Weight loss	ORPHA:729
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Fontaine Progeroid Syndrome	Cryptorchidism, Hydrocephalus, Failure to thrive, Small for gestational age	OMIM:612289
Oeis Complex	Cryptorchidism, Hydrocephalus, Myelomeningocele	OMIM:258040
Brucellosis	Small for gestational age, Orchitis, Chorea, Weight loss, Failure to thrive	ORPHA:1304
Chromosome 1P36 Deletion Syndrome, Distal	Cryptorchidism, Hydrocephalus, Obesity, Lateral ventricle dilatation, Agenesis of corpus callosum...	OMIM:607872
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral ventricle dilatation	OMIM:263520
Mucolipidosis Type Ii	Inability to walk, Weight loss	ORPHA:576
Lysosomal Acid Lipase Deficiency	Failure to thrive, Cachexia, Weight loss	ORPHA:275761
Primrose Syndrome	Ataxia, Bilateral cryptorchidism, Cryptorchidism, Truncal obesity, Neurodegeneration, Ventriculom...	OMIM:259050
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Cryptorchidism, Poor coordination, Limb tremor, Mild fetal ventricul...	OMIM:619841
Acute Adrenal Insufficiency	Failure to thrive, Weight loss	ORPHA:95409
Fraser Syndrome 1	Encephalocele, Cryptorchidism, Hydrocephalus, Myelomeningocele	OMIM:219000
Addison Disease	Failure to thrive, Primary testicular failure, Weight loss	ORPHA:85138
Multiple Myeloma	Paresthesia, Weight loss	ORPHA:29073
Juvenile Dermatomyositis	Weight loss	ORPHA:93672
Anemia, Congenital Dyserythropoietic, Type Iv	Weight loss	OMIM:613673
Q Fever	Weight loss	ORPHA:781
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus, Lower limb dysmetria	ORPHA:363700
Granulomatosis With Polyangiitis	Weight loss	OMIM:608710
Loeys-Dietz Syndrome 1	Hydrocephalus	OMIM:609192
Caroli Disease	Weight loss	ORPHA:53035
Peters Plus Syndrome	Cryptorchidism, Hydrocephalus, Spina bifida occulta, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:709
Peters-Plus Syndrome	Cryptorchidism, Hydrocephalus, Cerebral atrophy, Decreased body weight, Agenesis of corpus callos...	OMIM:261540
Congenital Disorder Of Glycosylation, Type Iim	Lateral ventricle dilatation, Cerebral atrophy	OMIM:300896
Neuroendocrine Tumor Of Stomach	Weight loss	ORPHA:100075
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Failure to thrive in infancy, Dysplastic corpus callosum, Lateral ventricle dilatation, Progressi...	ORPHA:500150
Tsh-Secreting Pituitary Adenoma	Tremor, Periodic hypokalemic paresis, Weight loss	ORPHA:91347
Hermansky-Pudlak Syndrome	Weight loss	ORPHA:79430
Stevens-Johnson Syndrome	Weight loss	ORPHA:36426
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Failure to thrive in infancy, Cachexia	ORPHA:37042
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aqueductal stenosis, Hydrocephalus, Frontotemporal cerebral atrophy, Lateral ventricle dilatation...	OMIM:619534
Gallbladder Neuroendocrine Tumor	Weight loss	ORPHA:100086
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Cryptorchidism, Obesity, Hydrocele testis, Failure to thrive	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Cryptorchidism, Obesity, Hydrocele testis, Failure to thrive	ORPHA:353277
Kabuki Syndrome 1	Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation	OMIM:147920
Toxic Epidermal Necrolysis	Weight loss	ORPHA:537
Renal Nutcracker Syndrome	Weight loss	ORPHA:71273
Coffin-Siris Syndrome 12	Cryptorchidism, Failure to thrive, Hippocampal atrophy, Noncommunicating hydrocephalus	OMIM:619325
Parathyroid Carcinoma	Testicular neoplasm, Weight loss	ORPHA:143
Castleman Disease	Weight loss	ORPHA:160
Bannayan-Riley-Ruvalcaba Syndrome	Cachexia	ORPHA:109
Nijmegen Breakage Syndrome	Neurodegeneration	OMIM:251260
Tetrasomy 9P	Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Oligozoospermia	ORPHA:3310
Pulmonary Alveolar Microlithiasis	Testicular microlithiasis, Weight loss	ORPHA:60025
Focal Dermal Hypoplasia	Cryptorchidism, Hydrocephalus, Myelomeningocele, Spina bifida occulta, Agenesis of corpus callosum	OMIM:305600
Cystinosis, Nephropathic	Failure to thrive in infancy, Cerebral atrophy, Weight loss	OMIM:219800
Microsporidiosis	Cachexia, Weight loss	ORPHA:2552
Baller-Gerold Syndrome	Hydrocephalus, Spina bifida occulta, Agenesis of corpus callosum	OMIM:218600
Pancreatoblastoma	Weight loss	ORPHA:677
Familial Pancreatic Carcinoma	Weight loss	ORPHA:1333
Camurati-Engelmann Disease	Waddling gait, Ataxia, Slender build, Cachexia	ORPHA:1328
Townes-Brocks Syndrome 1	Cryptorchidism, Hydrocephalus, Small for gestational age, Holoprosencephaly	OMIM:107480
Tuberous Sclerosis Complex	Noncommunicating hydrocephalus, Subependymal nodules	ORPHA:805
Granulomatosis With Polyangiitis	Hemiplegia, Weight loss	ORPHA:900
Postinfectious Vasculitis	Orchitis, Weight loss	ORPHA:48435
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss	ORPHA:309031
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Weight loss	ORPHA:2020
Immunodeficiency 31C	Weight loss	OMIM:614162
Tropical Pancreatitis	Weight loss	ORPHA:103918
Hydrolethalus Syndrome 1	Anencephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Severe hydrocephalus	OMIM:236680
Exstrophy-Epispadias Complex	Cryptorchidism, Hydrocephalus, Spina bifida	ORPHA:322
Seckel Syndrome	Cachexia	ORPHA:808
Mucopolysaccharidosis Type 2	Communicating hydrocephalus	ORPHA:580
Rat-Bite Fever	Weight loss	ORPHA:31205
Primary Sclerosing Cholangitis	Weight loss	ORPHA:171
Kikuchi-Fujimoto Disease	Ataxia, Weight loss	ORPHA:50918
Ileal Neuroendocrine Tumor	Weight loss	ORPHA:100078
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss	ORPHA:85408
Reactive Arthritis	Weight loss	ORPHA:29207
Malt Lymphoma	Weight loss	ORPHA:52417
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased testicular size, Failure to thrive, Testicular adrenal rest tumor, Weight loss	ORPHA:90794
Loeys-Dietz Syndrome 2	Hydrocephalus	OMIM:610168
Ppoma	Weight loss	ORPHA:97278
Somatostatinoma	Weight loss	ORPHA:97283
Otopalatodigital Syndrome, Type Ii	Cryptorchidism, Hydrocephalus, Spina bifida	OMIM:304120
Norrie Disease	Clonus, Cachexia, Cryptorchidism, Hypertonia, Failure to thrive, Cerebral cortical atrophy	ORPHA:649
Zollinger-Ellison Syndrome	Weight loss	ORPHA:913
Grfoma	Weight loss	ORPHA:97261
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Vipoma	Weight loss	ORPHA:97282
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Shuffling gait, Weight loss	ORPHA:740
Glucagonoma	Weight loss	ORPHA:97280
Marfan Syndrome	Meningocele, Slender build, Cachexia	ORPHA:558
Genitopatellar Syndrome	Cryptorchidism, Colpocephaly, Agenesis of corpus callosum	OMIM:606170
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Weight loss	OMIM:301074
Dermatomyositis	Weight loss	ORPHA:221
Simpson-Golabi-Behmel Syndrome, Type 1	Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum	OMIM:312870
Sarcoidosis	Increased CSF protein concentration, Abnormal cerebrospinal fluid morphology, Weight loss	ORPHA:797
Nijmegen Breakage Syndrome	Cachexia	ORPHA:647
Juvenile Polyposis Of Infancy	Cachexia	ORPHA:79076
Nocardiosis	Weight loss	ORPHA:31204
Multiple Endocrine Neoplasia Type 1	Weight loss	ORPHA:652
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Igg4-Related Dacryoadenitis And Sialadenitis	Weight loss	ORPHA:79078
Stickler Syndrome	Hemiplegia/hemiparesis, Slender build, Cachexia	ORPHA:828
Sarcoidosis, Susceptibility To, 1	Weight loss	OMIM:181000
Igg4-Related Kidney Disease	Weight loss	ORPHA:449395
Roberts-Sc Phocomelia Syndrome	Cryptorchidism, Hydrocephalus, Frontal encephalocele	OMIM:268300
Immunodeficiency 82 With Systemic Inflammation	Weight loss	OMIM:619381
Cushing Syndrome Due To Ectopic Acth Secretion	Truncal obesity, Abdominal obesity, Increased body weight, Weight loss	ORPHA:99889
Proteus Syndrome	Macroorchidism, Cachexia, Testicular neoplasm	ORPHA:744
Chronic Graft Versus Host Disease	Weight loss	ORPHA:99921
Tubulointerstitial Nephritis And Uveitis Syndrome	Weight loss	ORPHA:91500
Craniofacial Microsomia 1	Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum	OMIM:164210
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 Jhy

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 Jhy.

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

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Jhy^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Jhy^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, 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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