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Gene: Hsd17b2 MGI:1096386

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
hydroxysteroid (17-beta) dehydrogenase 2
Synonyms:
17 HSD type 2

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 Hsd17b2 mutations

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

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

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

The table below shows human diseases predicted to be associated to Hsd17b2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Microcephaly, Abnormal CSF pyruvate family amino acid concentration, Partial agenesis of ... ORPHA:79243
Senior-Loken Syndrome
Short stature, Ataxia, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis ORPHA:3156
Joubert Syndrome 15
Micropenis, Ataxia, Exencephaly, Nephronophthisis OMIM:614464
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Short stature, Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechog... OMIM:611555
Joubert Syndrome 4
Renal insufficiency, Ataxia, Abnormal renal medulla morphology, Stage 5 chronic kidney disease, N... OMIM:609583
Placental Insufficiency
Abnormal umbilical cord blood vessel morphology, Proportionate short stature, Small placenta, Abn... ORPHA:439167
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short stature, Microcephaly, Postnatal growth retardation, Severe postnatal growth retardation, S... ORPHA:73272
Silver-Russell Syndrome Due To A Point Mutation
Hypospadias, Postnatal growth retardation, Microphallus, Small placenta, Intrauterine growth reta... ORPHA:397590
Joubert Syndrome 16
Encephalocele, Dandy-Walker malformation, Renal cyst, Nephronophthisis OMIM:614465
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Nephronophthisis 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy OMIM:611498
Coach Syndrome 3
Renal insufficiency, Ataxia, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nep... OMIM:619113
Cach Syndrome
Decreased fetal movement, Microcephaly, T2 hypointense thalamus, Renal hypoplasia, Limb ataxia, D... ORPHA:135
Joubert Syndrome 7
Encephalocele, Ataxia, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Abnormal renal corticomedullary differentiation, Intrauterine growt... OMIM:616733
Rhyns Syndrome
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Nephronophthisis 18
Hydrocephalus, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointe... OMIM:615862
Pineocytoma
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Ataxia, Stage 5 chronic kidney disease, Lateral ventricle dilat... OMIM:608629
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ataxia, Ventriculomegaly, Microcephaly OMIM:618709
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Ataxia, Unilateral renal agenesis, Multiple small medulla... OMIM:216360
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Short stature, Hydrocephalus, Chronic kidney disease, Nephronophthisis, Ventriculomegaly OMIM:615630
Jeune Syndrome
Nephropathy, Renal insufficiency, Short stature, Nephronophthisis ORPHA:474
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Ataxia ORPHA:99966
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Nephronophthisis 15
Nephronophthisis OMIM:614845
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Enlarged fetal cisterna magna ORPHA:2703
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
2,4-Dienoyl-Coa Reductase Deficiency
Ataxia, Microcephaly, Hydrocephalus, Increased CSF lactate, Choreoathetosis, Colpocephaly, Hyperl... OMIM:616034
Lissencephaly 4
Short stature, Growth delay, Colpocephaly, Primary microcephaly, Agenesis of corpus callosum OMIM:614019
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly OMIM:604213
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus, Rhizomelia OMIM:166990
Combined Oxidative Phosphorylation Deficiency 51
Severe short stature, Growth delay, Focal T2 hyperintense thalamic lesion, Intrauterine growth re... OMIM:619057
Oculoskeletodental Syndrome
Nephrocalcinosis, Dysplastic corpus callosum, Short stature, Abnormal thalamus morphology ORPHA:557003
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Masa Syndrome
Short stature, Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Gómez-López-Hernández Syndrome
Hydrocephalus, Short stature, Ataxia, Impaired pain sensation ORPHA:1532
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Rhyns Syndrome
Renal insufficiency, Short stature, Decreased response to growth hormone stimulation test, Chroni... OMIM:602152
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly, Renal cyst OMIM:614870
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Oligomeganephronia
Branchial cyst, Renal insufficiency, Proteinuria, Premature birth, Unilateral renal agenesis, Glo... ORPHA:2260
Alexander Disease Type I
Hydrocephalus, Ataxia, Abnormal thalamic MRI signal intensity ORPHA:363717
Pallister-Hall-Like Syndrome
Occipital encephalocele, Short stature, Microcephaly, Hydrocephalus, Hypothalamic hamartoma, Micr... OMIM:241800
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Renal insufficiency, Ataxia, Hydrocephalus, Rena... OMIM:608091
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus, Prenatal movement abnormality, Fetal distress OMIM:266100
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Growth delay, Intrauterine growth retardation, Abnormal lateral ventricle morphology, Gait ataxia ORPHA:488635
Neu-Laxova Syndrome 1
Decreased fetal movement, Ventriculomegaly, Renal agenesis, Spina bifida, Polyhydramnios, Fetal a... OMIM:256520
Tubulinopathy-Associated Dysgyria
Abnormal thalamus morphology, Ataxia, Ventriculomegaly, Microcephaly ORPHA:467166
Arima Syndrome
Dilated fourth ventricle, Ataxia, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Growth d... OMIM:243910
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Bresek Syndrome
Hypoplasia of the bladder, Microcephaly, Hydrocephalus, Renal hypoplasia, Growth delay, Neonatal ... ORPHA:85284
1Q21.1 Microduplication Syndrome
Hydrocephalus, Hypospadias ORPHA:250994
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Hypoesthesia, Chorea, Dysmetria, Thalamic calcification OMIM:618317
Joubert Syndrome 6
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Ataxia, Stage 5 chronic kidney diseas... OMIM:610688
Nephronophthisis 1
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Growth delay,... OMIM:256100
Odontochondrodysplasia 1
Mesomelic short stature, Short stature, Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Meckel Syndrome, Type 4
Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Renal cyst, Intrauterine gr... OMIM:611134
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... OMIM:606966
Fetal Akinesia Deformation Sequence 1
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... OMIM:208150
Pseudo-Torch Syndrome 2
Microcephaly, Lateral ventricle dilatation, Abnormal renal corticomedullary differentiation, Feta... OMIM:617397
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Short stature, Premature birth, Polyhydramnios, Growth delay, Reduced renal corticomedullary diff... OMIM:618541
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Postnatal growth retardation, Large placenta, Umbilical hernia, Hydronephrosis, I... ORPHA:254528
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Microcephaly OMIM:300884
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Secondary microcephaly, Hydrocephalus, Short stature, Ataxia OMIM:618174
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Postnatal growth retardation, Partial agenesis of the corpus callosum, Lateral ve... ORPHA:300570
Biemond Syndrome Type 2
Hydrocephalus, Short stature, Hypospadias, Delayed puberty ORPHA:141333
Basal Ganglia Calcification, Idiopathic, 5
Athetosis, Chorea, Thalamic calcification OMIM:615483
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... OMIM:603278
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Renal agenesis, Hydrocephalus, Renal hypoplasia, Umbilical hernia, Micropenis ORPHA:171839
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Decreased fetal movement, Microcephaly, Absence of renal corticomedullary differentiation, Renal ... OMIM:619758
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Decreased fetal movement, Microcephaly, Renal hypoplasia/aplasia, Holoprosencephaly, Hydranenceph... ORPHA:2570
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Spinocerebellar Ataxia With Epilepsy
Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Focal T2 hyperintense ... ORPHA:254881
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Truncal ataxia OMIM:220200
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Umbilical hernia, Hydrocephalus, Short stature ORPHA:1516
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis OMIM:616629
Nephronophthisis 11
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Growth delay,... OMIM:613550
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Microcephaly, Hydrocephalus, Decreased thalami... ORPHA:370959
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Hydrocephalus, Umbilical hernia, Agenesis of corpus callosum, Ventriculomegaly OMIM:175700
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ... OMIM:609637
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification, Limb ataxia OMIM:618824
Craniofacial Dyssynostosis With Short Stature
Short stature, Hypospadias, Hydrocephalus, Horseshoe kidney, Agenesis of corpus callosum, Ventric... OMIM:218350
Ritscher-Schinzel Syndrome 1
Hypospadias, Decreased response to growth hormone stimulation test, Hydrocephalus, Single umbilic... OMIM:220210
Neural Tube Defects, Susceptibility To
Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Congenital Toxoplasmosis
Premature birth, Microcephaly, Hydrocephalus, Intrauterine growth retardation, Ventriculomegaly ORPHA:858
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Leigh Syndrome
Increased CSF lactate, Ataxia, Abnormal thalamic MRI signal intensity, Chorea, Lacticaciduria, Me... ORPHA:506
Hogue-Janssen Syndrome 2
Unilateral renal agenesis, Microcephaly, Hydrocephalus, Gait ataxia, Agenesis of corpus callosum,... OMIM:616362
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Focal T2 hyperintense thalamic lesion OMIM:613724
Williams-Beuren Region Duplication Syndrome
Short stature, Decreased response to growth hormone stimulation test, Unilateral renal agenesis, ... OMIM:609757
Nephronophthisis 19
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... OMIM:616217
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Postnatal growth retardation, Large placenta, Umbilical hernia, Polyhydramnios ORPHA:254534
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... OMIM:619902
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Hypoplasia of the bladder, R... OMIM:249000
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn... ORPHA:439232
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum, Microcephaly ORPHA:1528
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum OMIM:619302
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired vibratory sensation, Somatic sensory dysfunction, Impaired pain sensation, Impaired temp... ORPHA:99947
Progeria-Short Stature-Pigmented Nevi Syndrome
Short stature, Hypospadias, Microcephaly, Paresthesia, Delayed puberty, Micropenis, Abnormal thal... ORPHA:2959
Diabetic Embryopathy
Ureteral duplication, Microcephaly, Renal hypoplasia/aplasia, Hydrocephalus, Spinal dysraphism, S... ORPHA:1926
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Rhizomelia, Short stature, Ataxia, Microcephaly, Stage 5 chronic kidney dis... OMIM:266920
Joubert Syndrome 5
Occipital encephalocele, Ataxia, Impaired renal concentrating ability, Stage 5 chronic kidney dis... OMIM:610188
Aicardi-Goutieres Syndrome 4
Hydrocephalus, CSF lymphocytic pleiocytosis, Progressive microcephaly, Intrauterine growth retard... OMIM:610333
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Polyhydramnios, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker... OMIM:617967
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Premature birth, Polyhydramnios, Microcephaly, Hydrocephalus, Hydranencephaly, ... OMIM:225790
Alexander Disease
Increased CSF protein concentration, Hydrocephalus, Ataxia, Dysmetria OMIM:203450
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hypospadias, Microcephaly, Lateral ventricle dilatation, Umbilical hern... OMIM:617751
Restrictive Dermopathy
Ureteral duplication, Decreased fetal movement, Hypospadias, Premature delivery because of cervic... ORPHA:1662
Biemond Syndrome Ii
Hydrocephalus, Short stature OMIM:210350
Emanuel Syndrome
Thickened nuchal skin fold, Decreased fetal movement, Ventriculomegaly, Recurrent urinary tract i... OMIM:609029
Diencephalic Syndrome
Hydrocephalus, Long penis ORPHA:1672
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Secondary microcephaly, Decreased thalamic volume OMIM:613668
Thanatophoric Dysplasia Type 2
Encephalocele, Short stature, Abnormality of the kidney, Polyhydramnios, Hydrocephalus, Increased... ORPHA:93274
Joubert Syndrome 14
Encephalocele, Ataxia, Hydrocephalus, Meningocele, Renal cyst, Growth delay, Dandy-Walker malform... OMIM:614424
1Q44 Microdeletion Syndrome
Short stature, Microcephaly, Hydrocephalus, Horseshoe kidney, Growth delay, Vesicoureteral reflux... ORPHA:238769
6P22 Microdeletion Syndrome
Hydrocephalus, Hydronephrosis ORPHA:251046
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Microcephaly OMIM:619470
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Short stature, Proteinuria, Absence of renal cor... OMIM:120330
Central Neurocytoma
Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Paresthesia ORPHA:73256
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Fanconi Anemia, Complementation Group I
Short stature, Decreased response to growth hormone stimulation test, Microcephaly, Abnormal rena... OMIM:609053
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Renal agenesis, Ectopic kidney, Hydrocephalus, Horseshoe kidney, Lateral ve... OMIM:602200
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Microcephaly ORPHA:26
Temple Syndrome
Short stature, Decreased response to growth hormone stimulation test, Premature birth, Postnatal ... ORPHA:254516
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume, Microcephaly OMIM:619072
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Rhombencephalosynapsis
Ataxia, Hydrocephalus, Abnormal renal morphology, Fusion of the left and right thalami, Ventricul... ORPHA:59315
Degcags Syndrome
Recurrent urinary tract infections, Hypospadias, Premature birth, Polyhydramnios, Microcephaly, A... OMIM:619488
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Emanuel Syndrome
Decreased fetal movement, Ventriculomegaly, Premature birth, Unilateral renal agenesis, Microceph... ORPHA:96170
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Mosaic Trisomy 16
Hypospadias, Premature birth, Large placenta, Horseshoe kidney, Single umbilical artery, Intraute... ORPHA:1708
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Triploidy
Hypoplasia of penis, Hypospadias, Polyhydramnios, Hydrocephalus, Meningocele, Holoprosencephaly, ... ORPHA:3376
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Short stature, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Spinal dysra... ORPHA:1908
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Short stature, Ataxia, Polyhydramnios, Microcephaly, Hydrocephalus, Colpocephaly, Intrauterine gr... OMIM:619833
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... OMIM:616307
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Hydrocephalus, Premature birth, Hydrops fetalis OMIM:269920
Chiari Malformation Type Ii
Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus ca... OMIM:207950
Trisomy 17P
Hypoplasia of penis, Urethral valve, Short stature, Microcephaly, Hydrocephalus, Urethral stenosi... ORPHA:261290
Tetrasomy 15Q26
Hydrocephalus, Horseshoe kidney, Intrauterine growth retardation, Hydronephrosis, Dandy-Walker ma... OMIM:614846
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Microcephaly, Hydrocephalus, Growth delay, Proximal tubulopathy, Intra... OMIM:614576
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Microcephaly, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tubular atrophy, Red... OMIM:208085
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Thanatophoric Dysplasia
Abnormality of the kidney, Polyhydramnios, Hydrocephalus, Increased nuchal translucency, Dispropo... ORPHA:2655
Methylcobalamin Deficiency Type Cble
Glomerulopathy, Microcephaly, Postnatal growth retardation, Hemolytic-uremic syndrome, Hydrocepha... ORPHA:2169
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Axial Mesodermal Dysplasia Spectrum
Short stature, Premature birth, Renal hypoplasia/aplasia, Hydrocephalus, Abnormality of the urete... ORPHA:1834
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Vitamin K Antagonist Embryofetopathy
Intrauterine growth retardation, Myelomeningocele, Hydrocephalus ORPHA:1914
Dworschak-Punetha Neurodevelopmental Syndrome
Microcephaly, Dysplastic corpus callosum, Unilateral renal hypoplasia, Colpocephaly, Vesicoureter... OMIM:619955
Fried Syndrome
Hydrocephalus ORPHA:85335
Czeizel-Losonci Syndrome
Thickened nuchal skin fold, Spina bifida, Myelomeningocele, Hydrocephalus, Ureteral agenesis, Con... ORPHA:2437
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Ataxia, Gait ataxia ORPHA:1947
Trichohepatoenteric Syndrome 1
Short stature, Hypospadias, Polyhydramnios, Large placenta, Abnormalities of placenta or umbilica... OMIM:222470
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Premature birth, Polyhydramnios, Hydrocephalus, Fetal pericardial effusion, ... OMIM:219730
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation, Short stature, Hypospadias OMIM:618330
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology ORPHA:397725
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Ventriculomegaly, Short stature, Hypospadias, Nephroblastoma, Micro... OMIM:257300
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Multiple small medullary ... OMIM:263200
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus OMIM:618193
Intellectual Developmental Disorder, X-Linked 103
Micropenis, Lateral ventricle dilatation OMIM:300982
Congenital Muscular Dystrophy, Fukuyama Type
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly ORPHA:272
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... OMIM:617641
Central Precocious Puberty In Male
Pituitary microadenoma, Hydrocephalus, Hypothalamic hamartoma ORPHA:649929
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Kleeblattschaedel
Hydrocephalus OMIM:148800
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth, Renal hypoplasia OMIM:276950
Meckel Syndrome, Type 3
Occipital encephalocele, Multicystic kidney dysplasia, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Joubert Syndrome With Renal Defect
Encephalocele, Renal insufficiency, Ataxia, Hydrocephalus, Nephropathy, Agenesis of corpus callosum ORPHA:220497
Papillary Tumor Of The Pineal Region
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Ataxia, Increased CSF lactate OMIM:619046
3C Syndrome
Hypoplasia of penis, Ventriculomegaly, Short stature, Hypospadias, Postnatal growth retardation, ... ORPHA:7
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal corticomedullary ... OMIM:613159
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Short stature, Ataxia, Microcephaly, Postnatal growth retardation, D... ORPHA:168577
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly, Gait ataxia OMIM:616355
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Trisomy 1Q
Multicystic kidney dysplasia, Polyhydramnios, Hydrocephalus, Increased nuchal translucency, Hydro... ORPHA:261344
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology, Ataxia ORPHA:435638
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Short stature, Microcephaly OMIM:300558
Distal Triplication 15Q
Abnormality of the kidney, Hydrocephalus, Dilatation of the renal pelvis, Horseshoe kidney, Polyc... ORPHA:314588
Panhypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95513
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly, Microcephaly OMIM:304100
New-Onset Refractory Status Epilepticus
CSF pleocytosis, Increased CSF protein concentration, Abnormal thalamic MRI signal intensity ORPHA:363558
Pelvis-Shoulder Dysplasia
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Neonatal short-... ORPHA:2839
Cranioectodermal Dysplasia 3
Rhizomelia, Short stature, Stage 5 chronic kidney disease, Nephronophthisis OMIM:614099
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Short stature, Abnormality of the kidney, Hydrocephalus, Tubulointerstitial nephritis, Enuresis, ... ORPHA:459061
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Microcephaly, Hydrocephalus, Intrauterine growth retar... ORPHA:2075
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Adenohypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95512
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Polyhydramnios, Hydrocephalus, Urethral atresia, Absence of stomach bubble on fetal sonography, N... OMIM:314390
Hemangioblastoma
Dysesthesia, Neurogenic bladder, Hydrocephalus ORPHA:252054
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Renal insufficiency, Ventriculomegaly, Short stature, Hypospadias, Rhizo... ORPHA:397715
Fanconi Anemia, Complementation Group R
Growth delay, Hydrocephalus, Pelvic kidney, Microcephaly OMIM:617244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Abnormal penis morphology, Hypospadias, Epispadias, Exencephaly ORPHA:2211
Joubert Syndrome With Oculorenal Defect
Encephalocele, Renal insufficiency, Ataxia, Hydrocephalus, Nephropathy ORPHA:2318
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Microcephaly, Severe postnatal growth retardation, Lateral ventricle di... ORPHA:3078
Temple Syndrome
Intrauterine growth retardation, Hydrocephalus, Short stature, Premature birth OMIM:616222
Fanconi Anemia, Complementation Group B
Renal agenesis, Hydrocephalus, Growth delay, Single umbilical artery, Intrauterine growth retarda... OMIM:300514
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Short stature ORPHA:2183
Martsolf Syndrome 2
Lateral ventricle dilatation, Short stature, Microcephaly OMIM:619420
Oxoglutaric Aciduria
Abnormal urine alpha-ketoglutarate concentration, Hydrocephalus, Short stature, Ataxia ORPHA:31
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal thalamus morphology ORPHA:404440
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Secondary microcephaly, Umbilical hernia, Dandy-Walker malformation, Intrauterine ... OMIM:612938
Distal Deletion 10Q
Short stature, Ataxia, Premature birth, Microcephaly, Postnatal growth retardation, Functional ab... ORPHA:96148
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Nephroblastoma, Ventriculomegaly OMIM:602501
Peroxisome Biogenesis Disorder 12A (Zellweger)
Decreased fetal movement, Short stature, Microcephaly, Hydrocephalus, Growth delay, Renal tubular... OMIM:614886
Thanatophoric Dysplasia, Type I
Champagne cork sign, 1-minute APGAR score of 1, Decreased fetal movement, Polyhydramnios, Breech ... OMIM:187600
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Umbilical hernia, Hydrocephalus ORPHA:2181
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Impaired vibration sensation in the lower limbs ORPHA:401815
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation, Truncal ataxia OMIM:220220
Hydranencephaly
Postnatal growth retardation, Thalamic edema, Primary microcephaly, Intrauterine growth retardati... ORPHA:2177
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Severe short stature, H... ORPHA:2461
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:618577
Japanese Encephalitis
CSF pleocytosis, CSF lymphocytic pleiocytosis, Choreoathetosis, Focal T2 hyperintense thalamic le... ORPHA:79139
Cog5-Cdg
Neurogenic bladder, Short stature, Urinary incontinence, Microcephaly, Lateral ventricle dilatati... ORPHA:263487
Pseudotrisomy 13 Syndrome
Encephalocele, Renal agenesis, Microcephaly, Hydrocephalus, Renal hypoplasia, Holoprosencephaly, ... OMIM:264480
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Thickened nuchal skin fold, Intrauterine growth retardation, Lateral ventricle dilatation, Primar... ORPHA:284417
Griscelli Syndrome
Encephalocele, Hydrocephalus, Short stature, Ataxia ORPHA:381
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal localization of kidney ORPHA:83473
Adams-Oliver Syndrome 2
Decreased fetal movement, Microcephaly, Hydrocephalus, Lateral ventricle dilatation, Oligohydramnios OMIM:614219
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Impaired distal proprioception, Abnormal thalamic MRI signal intens... ORPHA:70595
Holoprosencephaly 7
Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, P... OMIM:610828
Neurooculorenal Syndrome
Hypoplasia of the bladder, Ectopic posterior pituitary, Unilateral renal agenesis, Postnatal grow... OMIM:620305
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Hydrocephalus, Growth delay, Holoprosencephaly, Agenesis of cor... ORPHA:77298
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Microcephaly OMIM:618302
Neuroferritinopathy
T2 hypointense thalamus, Chorea, Increased CSF protein concentration, Abnormal thalamic MRI signa... ORPHA:157846
Greenberg Dysplasia
Rhizomelia, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Inc... OMIM:215140
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Pontocerebellar Hypoplasia, Type 1A
Lateral ventricle dilatation, Ataxia, Limb ataxia, Microcephaly OMIM:607596
Multiple Sulfatase Deficiency
Short stature, Ataxia, Hydrocephalus, Mucopolysacchariduria, Increased CSF protein concentration,... OMIM:272200
Nasu-Hakola Disease
Chorea, Hydrocephalus, Ventriculomegaly ORPHA:2770
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation, Polyhydramnios, Primary microcephaly OMIM:618266
Restrictive Dermopathy 1
Ureteral duplication, Spontaneous chorioamniotic separation, Decreased fetal movement, Hypospadia... OMIM:275210
15Q Overgrowth Syndrome
Ureterovesical stenosis, Breech presentation, Hydrocephalus, Abnormal renal morphology, Horseshoe... ORPHA:314585
Arachnoiditis
Hydrocephalus, Urinary bladder sphincter dysfunction, Paresthesia ORPHA:137817
Holoprosencephaly-Caudal Dysgenesis Syndrome
Renal insufficiency, Premature birth, Microcephaly, Holoprosencephaly, Abnormality of the diencep... ORPHA:2165
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Umbilical hernia, Lateral ventricle dilatation, Renal hypoplasia OMIM:618914
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Proteinuria, Short stature, Decreased response to growth h... ORPHA:1855
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... ORPHA:84081
Combined Oxidative Phosphorylation Defect Type 7
Ataxia, Abnormal thalamic MRI signal intensity, Distal sensory impairment ORPHA:254930
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Cornelia De Lange Syndrome 1
Short stature, Hypospadias, Proteinuria, Ectopic kidney, Microcephaly, Abnormal renal morphology,... OMIM:122470
Familial Acute Necrotizing Encephalopathy
Abnormal thalamus morphology, Increased CSF protein concentration ORPHA:88619
Acute Disseminated Encephalomyelitis
Somatic sensory dysfunction, Ataxia, Abnormal thalamic MRI signal intensity, CSF lymphocytic plei... ORPHA:83597
Kagami-Ogata Syndrome
Postnatal growth retardation, Large placenta, Premature birth, Polyhydramnios ORPHA:254519
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Short stature, Decreased response to growth hormone stimulation test, Microcephaly, Renal cyst, C... OMIM:617260
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Da... OMIM:618736
Fg Syndrome Type 1
Short stature, Hypospadias, Premature birth, Hydrocephalus, Small pituitary gland, Umbilical hern... ORPHA:93932
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation, Ataxia OMIM:615889
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Ataxia, Urinary incontinence, Abnormal cerebrospinal fluid morphology, Narcolepsy, Dilated third ... ORPHA:314404
Coach Syndrome 2
Hydrocephalus, Agenesis of corpus callosum, Hyperechogenic kidneys OMIM:619111
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Growth delay, Colpocephaly, Absence of stomach bubble on fetal sonography, Agenesi... OMIM:620156
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly, Renal cyst, Horseshoe kidney, Aplasia of the... OMIM:612284
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Decreased fetal movement, Short stature, Microcephaly, Hydrocephalus, Micropenis, Dilated third v... ORPHA:500055
Mucopolysaccharidosis, Type Ii
Severe short stature, Short stature, Heparan sulfate excretion in urine, Hydrocephalus, Dermatan ... OMIM:309900
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion ORPHA:79264
Slc35A2-Cdg
Thickened nuchal skin fold, Short stature, Microcephaly, Abnormal renal morphology, Transient nep... ORPHA:356961
Glutaric Acidemia I
Ketonuria, Glutaric aciduria, Hydrocephalus, Choreoathetosis, Lateral ventricle dilatation OMIM:231670
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus, Secondary microcephaly, Microcephaly OMIM:615599
Short-Rib Thoracic Dysplasia 12
Polyhydramnios, Hydrocephalus, Anencephaly, Renal hypoplasia, Holoprosencephaly, Neonatal death, ... OMIM:269860
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Rhizomelia, Short stature, Hypospadias, Microcephaly, Postnatal growth retar... OMIM:611209
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Agenesis of corpus callosum, Hydrocephalus, Short stature, Ventriculomegaly OMIM:109120
Lowry-Maclean Syndrome
Hypospadias, Microcephaly, Hydrocephalus, Growth delay, Intrauterine growth retardation ORPHA:2409
Pontocerebellar Hypoplasia, Type 7
Ataxia, Hydrocephalus, Choreoathetosis, Progressive microcephaly, Micropenis, Ventriculomegaly OMIM:614969
Oculocerebral Hypopigmentation Syndrome, Preus Type
Short stature, Ataxia, Hydrocephalus, Abnormality of the diencephalon, Abnormal renal tubule morp... ORPHA:2720
Metatropic Dysplasia
Hydrocephalus, Severe short stature ORPHA:2635
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus, Short stature ORPHA:2701
Spondylocostal Dysostosis 4, Autosomal Recessive
Neurogenic bladder, Short stature, Hydrocephalus, Myelomeningocele, Spina bifida occulta OMIM:613686
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Microcephaly OMIM:613155
1Q21.1 Microdeletion Syndrome
Short stature, Microcephaly, Hydrocephalus, Vesicoureteral reflux, Intrauterine growth retardatio... ORPHA:250989
Optic Pathway Glioma
Growth delay, Hydrocephalus ORPHA:2086
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Renal insufficiency, Multicystic kidney dysplasia, Ataxia, Hydrocephalus... ORPHA:1454
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Short stature, Polyhydramnios, Microcephaly, Breech presentation, Lateral ventricle dilatation, P... OMIM:619847
Acrodysostosis 1 With Or Without Hormone Resistance
Mild postnatal growth retardation, Short stature, Unilateral renal agenesis, Hydrocephalus, Dispr... OMIM:101800
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis... ORPHA:157
Mucopolysaccharidosis, Type Vii
Severe short stature, Short stature, Postnatal growth retardation, Heparan sulfate excretion in u... OMIM:253220
Congenital Sialidosis Type 2
Ataxia, Abnormality of the kidney, Hydrocephalus, Dysmetria, Umbilical hernia ORPHA:93400
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Rhizomelia, Short stature, Hydrocephalus OMIM:300863
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Premature birth, Polyuria, Poly... OMIM:602522
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Agenesis of corpus callosum, Multiple renal cysts OMIM:618733
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus, Disproportionate short-trunk short stature, Microcephaly OMIM:613330
Axenfeld-Rieger Syndrome, Type 2
Umbilical hernia, Hydrocephalus, Hypospadias OMIM:601499
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Severe short stature, Microcephaly, Hydrocephalus, Hydrops fetalis, Single umbilic... ORPHA:1865
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Severe short stature, Rhizomelia, Urinary incontinence, Breech presentation, Hydrocephalus, Dispr... OMIM:616482
Myopathy, Centronuclear, X-Linked
Low 5-minute APGAR score, Decreased fetal movement, Premature birth, Polyhydramnios, Hydrocephalu... OMIM:310400
Craniosynostosis 6
Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Da... OMIM:616602
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Hydrocephalus, Growth delay, Lateral ventricle dilatation, Intraute... OMIM:612863
Hydrolethalus
Premature birth, Polyhydramnios, Hydrocephalus, Anencephaly, Agenesis of corpus callosum ORPHA:2189
Meningioma
Enlarged pituitary gland, Ataxia, Urinary incontinence, Reduced circulating prolactin concentrati... ORPHA:2495
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Secondary microcephaly ORPHA:397951
Beckwith-Wiedemann Syndrome
Ureteral duplication, Premature birth, Polyhydramnios, Large placenta, Nephropathy, Nephrolithias... ORPHA:116
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Hydrocephalus, Red-brown urine, Renal tubular epithel... ORPHA:228308
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Umbilical hernia, Hydrocephalus, Ureteral triplication, Hydronephrosis OMIM:104350
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Short stature, Postnatal growth retardation, Partial agenesis of the corpus callosum, Colpocephal... OMIM:620113
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... ORPHA:93110
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of penis, Hypospadias, Polyhydramnios, Microcephaly, Renal hypoplasia/a... ORPHA:2166
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Desmosterolosis
Severe short stature, Renal agenesis, Microcephaly, Renal hypoplasia/aplasia, Hydrocephalus, Grow... ORPHA:35107
Bilateral Generalized Polymicrogyria
Growth delay, Lateral ventricle dilatation, Short stature, Microcephaly ORPHA:208447
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Short stature, Microcephaly, Renal hypoplasia, Renal cyst, Colpocephaly, Ve... OMIM:618460
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Urinary incontinence, Hydrocephalus, Distal sens... ORPHA:2356
Fraser Syndrome 3
Sonographic non-visualized fetal bladder, Hypoplasia of the bladder, Hypoplasia of penis, Nonimmu... OMIM:617667
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Aceruloplasminemia
Ataxia, Chorea, Abnormal thalamic MRI signal intensity, Limb ataxia, Gait ataxia ORPHA:48818
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Growth delay, Secondary microcephaly, Abnormal thalamic MRI signal intensity ORPHA:485421
Hypotonia, Infantile, With Psychomotor Retardation
Decreased fetal movement, Lateral ventricle dilatation OMIM:616816
Halperin-Birk Syndrome
Colpocephaly, Umbilical hernia, Intrauterine growth retardation, Agenesis of corpus callosum, Ven... OMIM:618651
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Decreased fetal movement, Polyhydramnios, Lateral ventricle dilatation, Extra-axial cerebrospinal... OMIM:618291
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Hydro... ORPHA:91348
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Polycystic kidney dysplasia, Occipit... OMIM:616546
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Short stature, Unilateral renal agenesis ORPHA:1064
Lateral Meningocele Syndrome
Neurogenic bladder, Short stature, Hydrocephalus, Meningocele, Umbilical hernia OMIM:130720
Cutis Laxa, Autosomal Recessive, Type Iib
Intrauterine growth retardation, Hydrocephalus, Agenesis of corpus callosum, Microcephaly OMIM:612940
Stromme Syndrome
Microcephaly, Hydrocephalus, Bilateral renal hypoplasia, Stillbirth, Agenesis of corpus callosum,... OMIM:243605
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Microcephaly OMIM:618731
Pettigrew Syndrome
Ventriculomegaly, Microcephaly, Aqueductal stenosis, Hydrocephalus, Gait ataxia, Choreoathetosis,... OMIM:304340
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Ataxia, Growth delay, Nephrocalcinosis, Aminoaciduria OMIM:616084
Chromosome 6Pter-P24 Deletion Syndrome
Umbilical hernia, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:612582
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Polycystic kidney dysplasia, Hyperechogenic kidneys, Ventricu... OMIM:617866
Thanatophoric Dysplasia Type 1
Abnormality of the kidney, Polyhydramnios, Increased nuchal translucency, Hydrocephalus, Lethal s... ORPHA:1860
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Intrauterine growth retardation, Rhizomelia, Short stature, Hydrocephalus ORPHA:163966
Exstrophy-Epispadias Complex
Renal dysplasia, Renal insufficiency, Bladder fistula, Urinary incontinence, Spina bifida, Microc... ORPHA:322
Vacterl With Hydrocephalus
Renal agenesis, Polyhydramnios, Spina bifida, Aqueductal stenosis, Renal hypoplasia/aplasia, Hydr... ORPHA:3412
Pentalogy Of Cantrell
Encephalocele, Hypospadias, Renal agenesis, Hydrocephalus, Anencephaly, Renal dysplasia ORPHA:1335
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Short stature, Renal agenesis, Ectopic kidney, Microcephaly, Hydroc... OMIM:227646
Tay-Sachs Disease
Ventriculomegaly, Abnormal thalamic MRI signal intensity, Dysmetria ORPHA:845
Microcephaly 29, Primary, Autosomal Recessive
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Ataxia, Primary microcephaly OMIM:620047
Aicardi-Goutieres Syndrome 9
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Microcephaly, Stage 5 chron... OMIM:619487
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Growth delay, Lateral ventricle dilatation, Microcephaly OMIM:615716
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Ventriculomeg... OMIM:615287
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Microcephaly, Methylmalonic aciduria, Elevated urinary am... OMIM:614105
Walker-Warburg Syndrome
Hypoplasia of penis, Microcephaly, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus c... ORPHA:899
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation, Urinary incontinence OMIM:221770
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Joubert Syndrome With Ocular Defect
Encephalocele, Agenesis of corpus callosum, Hydrocephalus, Ataxia ORPHA:220493
Radial Aplasia, X-Linked
Hydrocephalus, Penile hypospadias OMIM:312190
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Pelvic kidney, Agenesis of corpus callosum, Hydronephrosis, Dandy-Walker malformation OMIM:613001
Endocrine-Cerebroosteodysplasia
Ventriculomegaly, Hypospadias, Polyhydramnios, Hydrocephalus, Holoprosencephaly, Microphallus, Hy... OMIM:612651
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Agenesis of corpus callosum, Hydrocephalus, Polyhydramnios ORPHA:3301
Mirage Syndrome
Recurrent urinary tract infections, Short stature, Hypospadias, Hydrocephalus, Microphallus, Intr... OMIM:617053
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Vesicoureteral reflux, Micropenis, Hydrocephalus, Unilateral renal agenesis OMIM:619951
Monosomy 18Q
Short stature, Microcephaly, Hydrocephalus, Growth delay, Choreoathetosis, Micropenis, Secondary ... ORPHA:1600
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Breech presentation, Lateral ventricle dilatation, Microcephaly OMIM:618890
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Ventriculomegaly, Proteinuria, Dysplastic corpus callosum, Chronic kidney disease, Tubulointersti... ORPHA:488627
Multiple Sulfatase Deficiency
Hydrocephalus, Mucopolysacchariduria, Short stature, Microcephaly ORPHA:585
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Hypospadias, Short stature, Ataxia, Microcephaly, Horseshoe kidney, Colpocephaly, Congenital post... OMIM:620083
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Polyhydramnios, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:1812
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus, Urinary incontinence OMIM:236690
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Renal insufficiency, Ketonuria, Ataxia, Microcephaly, Hemolytic-uremic syndrome, ... ORPHA:79282
Plasminogen Deficiency, Type I
Ventriculomegaly, Hydrocephalus, Nephrolithiasis, Nephritis, Dandy-Walker malformation OMIM:217090
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ataxia, Glutaric aciduria, Chorea, Chronic kidney disease, Athetosis... ORPHA:25
Cole-Carpenter Syndrome 2
Postnatal growth retardation, Hydrocephalus, Short stature, Oligohydramnios OMIM:616294
Cousin Syndrome
Rhizomelia, Hydrocephalus, Disproportionate short stature, Hydranencephaly, Hydronephrosis OMIM:260660
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Orofaciodigital Syndrome I
Short stature, Proteinuria, Microcephaly, Myelomeningocele, Hydrocephalus, Polycystic kidney dysp... OMIM:311200
Intellectual Developmental Disorder, Autosomal Dominant 65
Agenesis of corpus callosum, Ataxia, Noncommunicating hydrocephalus OMIM:619320
Craniopharyngioma
Enlarged pituitary gland, Proportionate short stature, Neoplasm of the anterior pituitary, Postna... ORPHA:54595
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Dubowitz Syndrome
Short stature, Hypospadias, Microcephaly, Postnatal growth retardation, Hydrocephalus, Intrauteri... ORPHA:235
Hurler Syndrome
Short stature, Heparan sulfate excretion in urine, Hydrocephalus, Dermatan sulfate excretion in u... OMIM:607014
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:2182
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Enuresis, Neural tube defect, Occipital meningo... ORPHA:268810
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Short stature, Ataxia ORPHA:1861
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity ORPHA:444013
Den Hoed-De Boer-Voisin Syndrome
Recurrent urinary tract infections, Ataxia, Premature birth, Microcephaly, Abnormality of prenata... OMIM:619229
Thakker-Donnai Syndrome
Communicating hydrocephalus, Intrauterine growth retardation, Agenesis of corpus callosum, Hydron... ORPHA:1780
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Small pituitary gland, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Glutaric aciduria, Lateral ventricle dilatation, D-2-hydroxyglutaric aciduria OMIM:600721
Holoprosencephaly
Encephalocele, Hypoplasia of penis, Proteinuria, Microcephaly, Chorea, Hydrocephalus, Spinal dysr... ORPHA:2162
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Microcephaly, Dandy-Walker malformation, Gait ataxia OMIM:618606
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Gracile Bone Dysplasia
Micropenis, Short stature, Hydrocephalus OMIM:602361
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short stature, Premature birth, Polyhydramnios, Microcephaly, Postnatal growth retardation, Large... ORPHA:96334
Bickerstaff Brainstem Encephalitis
Ataxia, Dysesthesia, CSF pleocytosis, Impaired proprioception, Abnormal thalamic MRI signal inten... ORPHA:79138
Dural Sinus Malformation
Myelopathy, Somatic sensory dysfunction, Ataxia, Hydrocephalus ORPHA:97339
Albers-Schönberg Osteopetrosis
Hydrocephalus, Short stature ORPHA:53
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Ventriculomegaly, Unilateral renal agenesis, Polyhydramnios, Umbilic... OMIM:618188
B4Galt1-Cdg
Hydrocephalus, Premature birth, Dandy-Walker malformation ORPHA:79332
Fanconi Anemia
Renal insufficiency, Hydroureter, Short stature, Hypospadias, Spina bifida, Abnormal preputium mo... ORPHA:84
47,Xyy Syndrome
Increased circulating gonadotropin level, Micropenis, Hypospadias, Hydrocephalus ORPHA:8
Joubert Syndrome
Encephalocele, Hydrocephalus, Ataxia ORPHA:475
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Renal cyst, Athetosis, Colpocephaly, Agenesis of corpus callosum, Polycystic kidney ... OMIM:614866
Glutamine Deficiency, Congenital
Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation, Neonatal... OMIM:610015
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation, Ataxia, Secondary microcephaly OMIM:617854
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short stature, Hydrocephalus, Renal tubular acidosis, Lateral ventricle dilatation, Dilated third... OMIM:619575
Iniencephaly
Encephalocele, Rhizomelia, Renal agenesis, Spina bifida, Polyhydramnios, Myelomeningocele, Hydroc... ORPHA:63259
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Short stature, Hy... ORPHA:2322
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Severe short stature, Neonatal short-limb short stature, Hydrocephalus OMIM:224400
Alkuraya-Kucinskas Syndrome
Micropenis, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly OMIM:617822
Amelocerebrohypohidrotic Syndrome
Hydrocephalus, Short stature ORPHA:1946
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Decreased fetal movement, Rhizomelia, Short s... ORPHA:709
Duplication Of The Pituitary Gland
Encephalocele, Short stature, Polyhydramnios, Microcephaly, Abnormal pituitary gland morphology, ... ORPHA:314621
Paganini-Miozzo Syndrome
Lateral ventricle dilatation, Urinary incontinence OMIM:301025
Otopalatodigital Syndrome Type 2
Encephalocele, Hypospadias, Myelomeningocele, Hydrocephalus, Hydronephrosis, Ureteral obstruction ORPHA:90652
Smith-Lemli-Opitz Syndrome
Partial agenesis of the corpus callosum, Renal cyst, Holoprosencephaly, Micropenis, Dandy-Walker ... OMIM:270400
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Pain insensitivity, Short stature, Decreased response to growth hormone stimulation test, Breech ... OMIM:616007
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Hydrocephalus, Renal hypoplasia, Growth delay, Intrauterine growth ret... OMIM:614083
Raine Syndrome
Hydroureter, Short stature, Microcephaly, Hydrocephalus, Neonatal death, Hydronephrosis OMIM:259775
H Syndrome
Short stature, Abnormality of the kidney, Hydrocephalus, Delayed puberty, Micropenis, Enlarged ki... ORPHA:168569
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Fusion of the left and right thalami, Secondary microcephaly OMIM:619306
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Ventriculomegaly OMIM:618476
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Microcephaly ORPHA:398189
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Lateral ventricle dilatation, Partial agenesis of the corpus callosum, Microcephaly OMIM:619517
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of corpus callos... OMIM:615219
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Renal cyst, Renal cell carcinoma, Subependymal... OMIM:613254
African Trypanosomiasis
Somatic sensory dysfunction, Renal insufficiency, Premature birth, Urinary incontinence, Myelopat... ORPHA:3385
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ataxia, Microcephaly, Hydrocephalus, Homocystinuria, Ventriculomegaly ORPHA:395
Leptin Receptor Deficiency
Short stature, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, A... OMIM:614963
Linear Skin Defects With Multiple Congenital Anomalies 1
Short stature, Hypospadias, Microcephaly, Hydrocephalus, Colpocephaly, Chordee, Micropenis, Agene... OMIM:309801
Opitz-Kaveggia Syndrome
Short stature, Hypospadias, Hydrocephalus, Partial agenesis of the corpus callosum, Umbilical hernia OMIM:305450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Agenesis of corpus callosum, Progressive microcephaly, Microcephaly OMIM:615249
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Microcephaly, Breech presentation, Hydrocephalus, Disproportionate short stature, Partial agenesi... OMIM:210710
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Hydrops fetalis, Polyhydramnios, Oligohydramnios ORPHA:163596
7Q11.23 Microduplication Syndrome
Short stature, Hypospadias, Unilateral renal agenesis, Hydrocephalus, Dysmetria, Growth delay, En... ORPHA:96121
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation... ORPHA:363958
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Sacral Defect With Anterior Meningocele
Myeloschisis, Neurogenic bladder, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus trac... OMIM:600145
Chromosome 17P13.1 Deletion Syndrome
Decreased fetal movement, Spina bifida, Microcephaly, Hydrocephalus, Umbilical hernia, Oligohydra... OMIM:613776
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Microcephaly, Hemolytic-uremic syndrome, Cystathioninuria, Hydr... OMIM:277400
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Ataxia, Dysmetria, Athetosis, Lateral ventricle dilatation, Intrauterin... ORPHA:572798
Crouzon Syndrome
Hydrocephalus ORPHA:207
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus, Microcephaly OMIM:620157
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia, Short stature, Polyhydramnios, Hydrocephalus, Partial agenesis of t... OMIM:300373
Tenorio Syndrome
Enuresis, Hydrocephalus, Ventriculomegaly OMIM:616260
Autosomal Recessive Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Oliguria, Stage 5 chronic kidney disease... ORPHA:731
Meckel Syndrome
Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, Microcephaly, Hydrocephalus, A... ORPHA:564
Cardiofaciocutaneous Syndrome 1
Short stature, Premature birth, Polyhydramnios, Hydrocephalus, Hydronephrosis OMIM:115150
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Premature birth, Hydrocephalus, Intrauterine growth retardation, O... OMIM:616914
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity ORPHA:309155
Holoprosencephaly 9
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:610829
Mucopolysaccharidosis, Type Vi
Short stature, Hydrocephalus, Disproportionate short-trunk short stature, Dermatan sulfate excret... OMIM:253200
Hajdu-Cheney Syndrome
Hypospadias, Short stature, Hydrocephalus, Renal cyst, Polycystic kidney dysplasia, Umbilical hernia OMIM:102500
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation, Distal sensory impairment OMIM:256850
Mosaic Trisomy 1
Polyhydramnios, Increased nuchal translucency, Renal cortical cysts, Renal cyst, Lateral ventricl... ORPHA:1692
Malan Overgrowth Syndrome
Episodic ataxia, Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
Icf Syndrome
Communicating hydrocephalus, Umbilical hernia, Short stature ORPHA:2268
X-Linked Intellectual Disability, Wilson Type
Growth delay, Lateral ventricle dilatation, Microcephaly ORPHA:85290
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Myelomeningocele, Vesicova... OMIM:258040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:613150
Mucopolysaccharidosis Type 1
Hydrocephalus, Mucopolysacchariduria, Short stature, Paresthesia ORPHA:579
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Microcephaly, Meningoencephalocele, Hydrocephalus, Age... OMIM:236670
Thoracoabdominal Syndrome
Hydrocephalus, Renal agenesis, Anencephaly, Hypospadias OMIM:313850
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Short stature, Decreased response to growth hormone stimulation test, Impaired pain sensation, Na... ORPHA:293987
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Decreased fetal movement, Hydrocephalus, Partial agenesis of the corpus callosum, ... OMIM:614643
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s... ORPHA:573278
Cardiofaciocutaneous Syndrome
Hydrocephalus, Short stature, Hydronephrosis, Premature birth ORPHA:1340
Combined Oxidative Phosphorylation Defect Type 39
Intrauterine growth retardation, Lateral ventricle dilatation, Increased CSF lactate, Microcephaly ORPHA:565624
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Limb Body Wall Complex
Encephalocele, Abnormality of the kidney, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... ORPHA:2369
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Agenesis of corpus callosum, Hydrops fetalis, Ectopic kidney ORPHA:268249
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Abnormal preputium morphology, Choroid plexus cyst, Glandular hypospadias, Lateral ventricle dila... ORPHA:293725
Hydrolethalus Syndrome 1
Hypospadias, Polyhydramnios, Anencephaly, Stillbirth, Severe hydrocephalus, Intrauterine growth r... OMIM:236680
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Athetosis, Hydrocephalus, Abnormal renal morphology OMIM:239300
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
22Q11.2 Deletion Syndrome
Short stature, Hypospadias, Spina bifida, Microcephaly, Polyhydramnios, Hydrocephalus, Meningocel... ORPHA:567
Gabriele-De Vries Syndrome
Intrauterine growth retardation, Ureteropelvic junction obstruction, Hydronephrosis, Lateral vent... OMIM:617557
Tetrasomy 5P
Postnatal growth retardation, Hydrocephalus ORPHA:3309
Knobloch Syndrome
Vesicoureteral reflux, Occipital encephalocele, Hydrocephalus, Bifid ureter ORPHA:1571
Congenital Myopathy 22A, Classic
Decreased fetal movement, Polyhydramnios, Breech presentation, Normal pressure hydrocephalus, Neo... OMIM:620351
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal umbilical cord blood vessel morphology, Hypospadias, Unilateral renal agenesis, Elevated... ORPHA:95699
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly OMIM:253800
Developmental And Epileptic Encephalopathy 49
Microcephaly, Dysplastic corpus callosum, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly OMIM:617281
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus, Premature birth ORPHA:974
Gorlin Syndrome
Hydrocephalus ORPHA:377
Osteopetrosis, Autosomal Recessive 5
Short stature, Microcephaly, Hydrocephalus, Growth delay, Stillbirth, Ventriculomegaly OMIM:259720
Dextrocardia
Hydrocephalus, Abnormal renal morphology, Abnormality of the ureter ORPHA:1666
Achondroplasia
Hydrocephalus, Disproportionate short stature, Rhizomelia ORPHA:15
Jacobsen Syndrome
Hypospadias, Microcephaly, Hydrocephalus, Holoprosencephaly, Intrauterine growth retardation OMIM:147791
Apert Syndrome
Hydrocephalus, Rhizomelic arm shortening, Agenesis of corpus callosum, Hydronephrosis, Ventriculo... OMIM:101200
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Microcephaly, Hydrocephalus, Renal hypoplasia, Intrauterine growth retardation, Mi... OMIM:619321
Trisomy 8P
Microcephaly, Hydrocephalus, Fetal pyelectasis, Nephrocalcinosis, Micropenis, Agenesis of corpus ... ORPHA:264450
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate ORPHA:90065
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus, Short stature OMIM:112240
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short stature, Hypospadias, Microcephaly, Hydrocephalus, Micropenis, Hydronephrosis ORPHA:163979
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:613154
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618619
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus, Short stature, Ataxia, Microcephaly ORPHA:220295
Neurofibromatosis, Type I
Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Renal artery stenosis OMIM:162200
Beare-Stevenson Cutis Gyrata Syndrome
Agenesis of corpus callosum, Hydrocephalus, Hypospadias, Ventriculomegaly OMIM:123790
Osteogenesis Imperfecta
Somatic sensory dysfunction, Rhizomelia, Short stature, Ataxia, Hydrocephalus, Nephrolithiasis, H... ORPHA:666
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Microcephaly, Lateral ventricle dilatation, Male urethral meatus stenosis, Dilated t... ORPHA:464738
Oculocerebrocutaneous Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Developmental And Epileptic Encephalopathy 31B
Agenesis of corpus callosum, Colpocephaly, Secondary microcephaly, Ventriculomegaly OMIM:620352
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Umbilical hernia, Hydrocephalus ORPHA:1555
Mucopolysaccharidosis Type 3
Ataxia, Heparan sulfate excretion in urine, Hydrocephalus, Mucopolysacchariduria, Urinary glycosa... ORPHA:581
Cerebrooculonasal Syndrome
Encephalocele, Postnatal growth retardation, Hydrocephalus, Dandy-Walker malformation, Ventriculo... OMIM:605627
Hajdu-Cheney Syndrome
Short stature, Hypospadias, Hydrocephalus, Multiple renal cysts, Delayed puberty, Umbilical hernia ORPHA:955
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:603387
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Decreased fetal movement, Crossed fused renal ectopia, Recurrent uri... OMIM:619841
Cerebral Visual Impairment
Hydrocephalus, Premature birth, Microcephaly ORPHA:447788
Cockayne Syndrome A
Renal insufficiency, Short stature, Ataxia, Proteinuria, Microcephaly, Severe postnatal growth re... OMIM:216400
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Acrofacial Dysostosis 1, Nager Type
Short stature, Premature birth, Unilateral renal agenesis, Microcephaly, Aqueductal stenosis, Hyd... OMIM:154400
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Hydrocephalus, Nephrotic syndrome, Heavy protein... ORPHA:505248
Hurler Syndrome
Growth delay, Hydrocephalus, Mucopolysacchariduria, Short stature ORPHA:93473
Isotretinoin-Like Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Hydrocephalus, Microcephaly ORPHA:2306
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:60040
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thalamic hemorrhage, Abnormal renal cortex morphology, Abnormality of the kidney ORPHA:464321
Desmosterolosis
Rhizomelia, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly OMIM:602398
Semilobar Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus... ORPHA:220386
Alobar Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus... ORPHA:93924
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypospadias, Lateral ventricle dilatation, Disproportionate short-limb short stature, Small pitui... OMIM:619479
Achondroplasia
Rhizomelia, Polyhydramnios, Hydrocephalus, Premature rupture of membranes, Neonatal short-limb sh... OMIM:100800
Aymé-Gripp Syndrome
Short stature, Proteinuria, Postnatal growth retardation, Hydrocephalus, Ventriculomegaly ORPHA:1272
Peters-Plus Syndrome
Ureteral duplication, Rhizomelia, Hypospadias, Polyhydramnios, Microcephaly, Postnatal growth ret... OMIM:261540
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Unilateral renal agenesis ORPHA:457284
Peho Syndrome
Hydrocephalus, Ventriculomegaly, Microcephaly ORPHA:2836
Medulloblastoma
Ataxia, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Cerebellar ataxia associated wit... ORPHA:616
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Hydrocephalus, Horseshoe kidney, Multiple re... ORPHA:3310
Alagille Syndrome 1
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... OMIM:118450
Cockayne Syndrome B
Renal insufficiency, Severe short stature, Ataxia, Proteinuria, Microcephaly, Postnatal growth re... OMIM:133540
Heterotaxy, Visceral, 1, X-Linked
Renal agenesis, Polyhydramnios, Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Horseshoe k... OMIM:306955
Kabuki Syndrome 1
Crossed fused renal ectopia, Short stature, Microcephaly, Postnatal growth retardation, Hydroceph... OMIM:147920
Cole-Carpenter Syndrome
Communicating hydrocephalus, Intrauterine growth retardation, Short stature ORPHA:2050
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum, Microcephaly OMIM:619244
Mend Syndrome
Crossed fused renal ectopia, Short stature, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Muenke Syndrome
Hydrocephalus ORPHA:53271
Alexander Disease
Ataxia, Aqueductal stenosis, Chorea, Hydrocephalus, Agenesis of corpus callosum ORPHA:58
Aicardi Syndrome
Spina bifida, Microcephaly, Postnatal growth retardation, Partial agenesis of the corpus callosum... OMIM:304050
Campomelic Dysplasia
Hypospadias, Spina bifida, Polyhydramnios, Hydrocephalus, Spinal dysraphism, Disproportionate sho... OMIM:114290
Monosomy 9Q22.3
Umbilical hernia, Hydrocephalus, Nephroblastoma, Ventriculomegaly ORPHA:77301
Focal Dermal Hypoplasia
Ureteral duplication, Short stature, Microcephaly, Myelomeningocele, Hydrocephalus, Horseshoe kid... OMIM:305600
Osteootohepatoenteric Syndrome
Hydrocephalus, Proteinuria, Grade II vesicoureteral reflux OMIM:619377
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Microcephaly, Hydrocephalus, Par... OMIM:619895
Whipple Disease
Hydrocephalus, Ataxia ORPHA:3452
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Polyhydramnios OMIM:600559
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation, Short stature OMIM:619995
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Lateral ventricle dilatation, Dilated third ventricle, Polyhydramnios, Partial agenesis of the co... OMIM:617296
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Shprintzen-Goldberg Craniosynostosis Syndrome
Umbilical hernia, Hydrocephalus, Microcephaly OMIM:182212
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Hydrocephalus, Unilateral renal agenesis, Microcephaly ORPHA:261337
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Nuchal cord, Ataxia, Hypospadias, Microcephaly, Hydrocephalus, Hematuria, Abnormal placenta morph... OMIM:619475
Fontaine Progeroid Syndrome
Short stature, Microcephaly, Hydrocephalus, Oligohydramnios, Neonatal death, Umbilical hernia, Mi... OMIM:612289
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Nuchal cord, Short stature, Microcephaly, Lateral ventricle dilatation, Short umbilical cord OMIM:618367
Fraser Syndrome 1
Encephalocele, Hypospadias, Microcephaly, Renal hypoplasia/aplasia, Myelomeningocele, Hydrocephal... OMIM:219000
Prader-Willi Syndrome Due To Translocation
Short stature, Abnormality of the kidney, Decreased response to growth hormone stimulation test, ... ORPHA:177907
Otopalatodigital Syndrome, Type Ii
Hypospadias, Short stature, Spina bifida, Postnatal growth retardation, Hydrocephalus, Stillbirth... OMIM:304120
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy, Ataxia OMIM:604121
Gaucher Disease
Proteinuria, Short stature, Ataxia, Hydrocephalus, Hydrops fetalis, Hematuria, Delayed puberty, V... ORPHA:355
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Severe short stature, Hypospadias, Epispadias, Hydrocephalus, Agenesis... ORPHA:2658
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Marshall-Smith Syndrome
Short stature, Hydrocephalus, Umbilical hernia, Agenesis of corpus callosum, Ventriculomegaly OMIM:602535
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Short stature, Ataxia, Hypospadias, Decreased response to gro... ORPHA:3455
Helsmoortel-Van Der Aa Syndrome
Ventriculomegaly, Recurrent urinary tract infections, Short stature, Decreased response to growth... OMIM:615873
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Recurrent urinary tract infections, Ataxia, Oligosacchariduria, Umbi... ORPHA:309282
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Microcephaly, Aqueductal stenosis, Hydrocephalus, Fetal pyelectasis, Partial agenesis of the corp... OMIM:619512
Wolf-Hirschhorn Syndrome
Decreased fetal movement, Hypospadias, Short stature, Microcephaly, Hydrocephalus, Growth delay, ... OMIM:194190
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Increased cir... ORPHA:91350
Yunis-Varon Syndrome
Hypospadias, Short stature, Polyhydramnios, Postnatal growth retardation, Hydrocephalus, Increase... ORPHA:3472
Primary Ciliary Dyskinesia
Hydrocephalus, Ventriculomegaly ORPHA:244
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Postnatal growth retardation, Renal neoplasm, Hydrocephalus, Oligohydramnios ORPHA:536467
Genitourinary And/Or Brain Malformation Syndrome
Hypospadias, Dysplastic corpus callosum, Colpocephaly, Chordee, Secondary microcephaly, Holoprose... OMIM:618820
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Polyhydramnios, Ventriculomegaly, Microcephaly OMIM:613603
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Apert Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:87
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Pituitary adenoma, Chronic kidney disease, Stage ... ORPHA:805
Rabin-Pappas Syndrome
Hydrocephalus, Microcephaly OMIM:620155
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Rhizomelia, Short stature, Hydrocephalus OMIM:245600
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Hydrocephalus, Hematuria, Multiple renal cysts, Renal ang... ORPHA:538
Roberts-Sc Phocomelia Syndrome
Hypospadias, Polyhydramnios, Microcephaly, Postnatal growth retardation, Hydrocephalus, Long peni... OMIM:268300
Histiocytoid Cardiomyopathy
Hydrocephalus, Agenesis of corpus callosum, Renal cyst ORPHA:137675
Glycogen Storage Disease Of Heart, Lethal Congenital
Breech presentation, Hydrocephalus, Enlarged kidney OMIM:261740
Hec Syndrome
Communicating hydrocephalus, Premature birth, Polyhydramnios ORPHA:2119
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Urethral valve, Microcephaly, Hyd... OMIM:107480
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Recurrent urinary tract infections, Short stature, Hypospa... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Recurrent urinary tract infections, Short stature, Hypospa... ORPHA:353277
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Coccidioidomycosis
Renal insufficiency, Abnormality of the kidney, CSF pleocytosis, Hydrocephalus, CSF lymphocytic p... ORPHA:228123
Williams Syndrome
Hypoplasia of penis, Dysmetria, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Vesicou... ORPHA:904
Pseudoaminopterin Syndrome
Hydrocephalus, Short stature, Horseshoe kidney ORPHA:221120
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Duplicated collecting system, Bilateral fetal pyelectasis, Polyhydramnios, Microcephaly, Breech p... OMIM:300868
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Severe short stature, Hypospadias, Microcephaly, Epispadias, Hydroceph... ORPHA:2556
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Abnormal renal morphology OMIM:207410
Microphthalmia With Limb Anomalies
Hydrocephalus, Short stature, Horseshoe kidney ORPHA:1106
Full Nf2-Related Schwannomatosis
Myelopathy, Somatic sensory dysfunction, Hydrocephalus, Hyperesthesia ORPHA:637
Mohr Syndrome
Hydrocephalus, Short stature OMIM:252100
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Umbilical hernia, Ventriculomegaly, Microcephaly ORPHA:2462
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Abnormality of the urinary system ORPHA:2184
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Lower limb dysmetria, Short stature, Renal hypoplasia/aplasia, Hydrocephalus, Abnormal renal morp... ORPHA:363700
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Short stature, Anterior pituitary hypoplasia, Fetal distress, Po... OMIM:619534
Osteopetrosis, Autosomal Recessive 7
Growth delay, Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Lateral ventricle dilatation, Ataxia ORPHA:2822
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus ORPHA:2969
Niemann-Pick Disease Type C
Ataxia, Fetal ascites, Narcolepsy, Chorea, Hydrops fetalis, Progressive gait ataxia ORPHA:646
Congenital Disorder Of Glycosylation, Type Iim
Microcephaly, Vesicovaginal fistula, Lateral ventricle dilatation, Intrauterine growth retardatio... OMIM:300896
Crouzon Syndrome
Hydrocephalus OMIM:123500
Lhermitte-Duclos Disease
Hydrocephalus, Ataxia ORPHA:65285
16Q24.3 Microdeletion Syndrome
Colpocephaly, Ventriculomegaly ORPHA:261250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Short stature, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, ... OMIM:181270
6Q Terminal Deletion Syndrome
Hypospadias, Phimosis, Dysmetria, Gait ataxia, Colpocephaly ORPHA:75857
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Capillary Malformation-Arteriovenous Malformation
Neurogenic bladder, Nonimmune hydrops fetalis, Hydrocephalus ORPHA:137667
Wiedemann-Rautenstrauch Syndrome
Short stature, Hypospadias, Hydrocephalus, Long penis, Truncal ataxia, Intrauterine growth retard... OMIM:264090
Hypoplasminogenemia
Hydrocephalus, Nephrolithiasis, Dandy-Walker malformation ORPHA:722
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus, Rhizomelia OMIM:618162
Costello Syndrome
Renal insufficiency, Short stature, Premature birth, Polyhydramnios, Hydrocephalus, Ventriculomegaly OMIM:218040
Tetraamelia Syndrome 1
Single umbilical artery, Urethral atresia, Hydrocephalus, Renal agenesis OMIM:273395
Narcolepsy 1
Narcolepsy OMIM:161400
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Narcolepsy 3
Narcolepsy OMIM:609039
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Hydrops fetalis, Polycystic kidney dysplasia, Lateral ventricle dilatation OMIM:263520
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Short stature, Microcephaly, Lateral ventricle dilatation, Vesicoureter... OMIM:619869
Narcolepsy 7
Narcolepsy OMIM:614250
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Microcephaly OMIM:619278
Amoebiasis Due To Free-Living Amoebae
Ataxia, Abnormal cerebrospinal fluid morphology, CSF lymphocytic pleiocytosis, Abnormal hypothala... ORPHA:68
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Micropenis, Ventriculomegaly, Gait ataxia ORPHA:457359
Chromosome 1P36 Deletion Syndrome, Distal
Hypospadias, Microcephaly, Ectopic kidney, Hydrocephalus, Growth delay, Lateral ventricle dilatat... OMIM:607872
Mend Syndrome
Thickened nuchal skin fold, Hydrocephalus, Short stature, Dandy-Walker malformation ORPHA:401973
Baller-Gerold Syndrome
Severe short stature, Short stature, Abnormality of the kidney, Hydrocephalus, Severe intrauterin... OMIM:218600
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Polyhydramnios, Hydrocephalus, Renal cyst, Duplication of renal pelvis, Umbilical he... OMIM:312870
Neurofibromatosis Type 1
Short stature, Ataxia, Abnormality of the upper urinary tract, Hydrocephalus, Paresthesia, Delaye... ORPHA:636
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Oligohydramnios ORPHA:3016
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hydrocephalus, Limb ataxia, Growth delay, Delayed puberty, Ventriculomegaly ORPHA:2072
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral renal agenesis, Proportionate short stature, Bilateral renal dysplasia, Dysplastic cor... ORPHA:500150
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly, Chordee, Hypospadias ORPHA:477993
Coffin-Siris Syndrome 12
Hypospadias, Short stature, Microcephaly, Noncommunicating hydrocephalus, Horseshoe kidney OMIM:619325
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Holoprosencephaly 13, X-Linked
Alobar holoprosencephaly, Microcephaly, Colpocephaly, Agenesis of corpus callosum, Semilobar holo... OMIM:301043
Craniofacial Microsomia 1
Occipital encephalocele, Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Hydrocepha... OMIM:164210
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Ventriculomegaly, Gait ataxia OMIM:617011
Mucopolysaccharidosis Type 2
Growth delay, Umbilical hernia, Short stature, Communicating hydrocephalus ORPHA:580
Genitopatellar Syndrome
Multicystic kidney dysplasia, Polyhydramnios, Microcephaly, Colpocephaly, Micropenis, Agenesis of... OMIM:606170
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Autosomal Recessive Malignant Osteopetrosis
Growth delay, Hydrocephalus ORPHA:667
Cryptococcosis
Hydrocephalus ORPHA:1546
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Short stature, Urinary incontinence, Hypospadias, Impaired pain sen... ORPHA:261537
Loeys-Dietz Syndrome 2
Umbilical hernia, Hydrocephalus OMIM:610168
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly, Microcephaly OMIM:253280
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Short stature, Urinary incontinence, Hypospadias, Impaired pain sen... ORPHA:261552
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hydrocephalus, Short stature ORPHA:3042
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Norrie Disease
Abnormality of the diencephalon, Microcephaly, Delayed puberty ORPHA:649
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780

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 Hsd17b2

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 Hsd17b2.

No publications found that use IMPC mice or data for Hsd17b2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Hsd17b2tm235168(L1L2_Bact_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors
Hsd17b2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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