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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
Increased CSF lactate, Low APGAR score, Abnormal medullary pyramid morphology, Abnormal CSF pyruv... ORPHA:79243
Senior-Loken Syndrome
Nephronophthisis, Short stature, Ataxia, Chronic kidney disease, Stage 5 chronic kidney disease ORPHA:3156
Joubert Syndrome 15
Exencephaly, Nephronophthisis, Micropenis, Ataxia OMIM:614464
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Short sta... OMIM:611555
Joubert Syndrome 4
Abnormal renal medulla morphology, Nephronophthisis, Ataxia, Stage 5 chronic kidney disease, Rena... OMIM:609583
Placental Insufficiency
Abnormal placenta morphology, Small placenta, Proportionate short stature, Abnormal umbilical cor... ORPHA:439167
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Postnatal growth retardation, Small placenta, Severe postnatal growth retardation, Severe intraut... ORPHA:73272
Silver-Russell Syndrome Due To A Point Mutation
Postnatal growth retardation, Small placenta, Hypospadias, Microphallus, Intrauterine growth reta... ORPHA:397590
Joubert Syndrome 16
Dandy-Walker malformation, Nephronophthisis, Encephalocele, Renal cyst OMIM:614465
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Nephronophthisis 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy OMIM:611498
Coach Syndrome 3
Nephronophthisis, Renal interstitial inflammation, Renal tubular atrophy, Ataxia, Renal interstit... OMIM:619113
Joubert Syndrome 7
Nephronophthisis, Encephalocele, Renal cyst, Ataxia, Stage 5 chronic kidney disease OMIM:611560
Cach Syndrome
Limb ataxia, T2 hypointense thalamus, Truncal ataxia, Growth delay, Renal hypoplasia, Microcephal... ORPHA:135
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Renal dysplasia, Abnormal renal corticomedullary differentiation, I... OMIM:616733
Joubert Syndrome 3
Nephronophthisis, Enlarged fossa interpeduncularis, Ataxia, Lateral ventricle dilatation, Stage 5... OMIM:608629
Pineocytoma
Hydrocephalus, Episodic ataxia, Increased CSF protein concentration ORPHA:251912
Nephronophthisis 18
Nephronophthisis, Hydrocephalus, Thickened glomerular basement membrane, Renal tubular atrophy, S... OMIM:615862
Rhyns Syndrome
Hypopituitarism, Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly, Ataxia, Microcephaly OMIM:618709
Coach Syndrome 1
Occipital encephalocele, Nephronophthisis, Unilateral renal agenesis, Encephalocele, Renal cyst, ... OMIM:216360
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Hydrocephalus, Short stature, Chronic kidney disease, Ventriculomegaly OMIM:615630
Nephronophthisis 9
Postnatal growth retardation, Polyuria, Nephronophthisis, Renal cortical microcysts, Stage 5 chro... OMIM:613824
Jeune Syndrome
Short stature, Nephronophthisis, Renal insufficiency, Nephropathy ORPHA:474
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Ataxia ORPHA:99966
Nephronophthisis 15
Nephronophthisis OMIM:614845
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem... OMIM:614377
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Enlarged fetal cisterna magna, Hydrocephalus ORPHA:2703
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Lissencephaly 4
Growth delay, Short stature, Colpocephaly, Agenesis of corpus callosum, Primary microcephaly OMIM:614019
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:604213
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
2,4-Dienoyl-Coa Reductase Deficiency
Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Microcephaly, Colpoceph... OMIM:616034
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Rhizomelia, Agenesis of corpus callosum OMIM:166990
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Growth delay, Caesarian section, Severe short stature, Int... OMIM:619057
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Oculoskeletodental Syndrome
Short stature, Nephrocalcinosis, Abnormal thalamus morphology, Dysplastic corpus callosum ORPHA:557003
Gómez-López-Hernández Syndrome
Short stature, Impaired pain sensation, Ataxia, Hydrocephalus ORPHA:1532
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Senior-Loken Syndrome 4
Polyuria, Stage 5 chronic kidney disease, Nephronophthisis OMIM:606996
Masa Syndrome
Hydrocephalus, Short stature, Microcephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly, Renal cyst OMIM:614870
Rhyns Syndrome
Decreased response to growth hormone stimulation test, Nephronophthisis, Anterior hypopituitarism... OMIM:602152
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... OMIM:614817
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Reduced renal corticomedull... OMIM:617610
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... OMIM:602088
Oligomeganephronia
Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal agenesis, Abn... ORPHA:2260
Joubert Syndrome 2
Nephronophthisis, Encephalocele, Hydrocephalus, Renal cyst, Enlarged fossa interpeduncularis, Ata... OMIM:608091
Alexander Disease Type I
Hydrocephalus, Abnormal thalamic MRI signal intensity, Ataxia ORPHA:363717
Pallister-Hall-Like Syndrome
Occipital encephalocele, Anterior hypopituitarism, Hydrocephalus, Hypothalamic hamartoma, Short s... OMIM:241800
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Prenatal movement abnormality, Fetal distress, Hydrocephalus OMIM:266100
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Intrauterine growth retardation, Abnormal lateral ventricle morphology, Gait ataxia, Growth delay ORPHA:488635
Neu-Laxova Syndrome 1
Short umbilical cord, Stillbirth, Polyhydramnios, Small placenta, Hydranencephaly, Dandy-Walker m... OMIM:256520
Arima Syndrome
Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, ... OMIM:243910
Tubulinopathy-Associated Dysgyria
Microcephaly, Ventriculomegaly, Abnormal thalamus morphology, Ataxia ORPHA:467166
1Q21.1 Microduplication Syndrome
Hydrocephalus, Hypospadias ORPHA:250994
Joubert Syndrome 6
Nephronophthisis, Dilated fourth ventricle, Enlarged fossa interpeduncularis, Ataxia, Stage 5 chr... OMIM:610688
Bresek Syndrome
Hydrocephalus, Renal dysplasia, Vesicoureteral reflux, Hypoplasia of the bladder, Growth delay, R... ORPHA:85284
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Chorea, Thalamic calcification, Ataxia, Dysmetria, Hypoesthesia OMIM:618317
Odontochondrodysplasia 1
Short stature, Polycystic kidney dysplasia, Nephronophthisis, Mesomelic short stature OMIM:184260
Nephronophthisis 1
Polyuria, Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Tubular basement membrane... OMIM:256100
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Renal cyst, Mi... OMIM:611134
Pseudo-Torch Syndrome 2
Fetal distress, Abnormal renal corticomedullary differentiation, Microcephaly, Lateral ventricle ... OMIM:617397
Nephronophthisis 4
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Growth delay, Renal tubular atrophy, Sta... OMIM:606966
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, Stillbirth, Polyhydramnios, Small placenta, Hydrocephalus, Increased nuchal... OMIM:208150
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Postnatal growth retardation, Large placenta, Polyhydramnios, Hydronephrosis, Umbilical hernia, I... ORPHA:254528
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Polyhydramnios, Short stature, Growth delay, Premature birth, Reduced renal corticomedullary diff... OMIM:618541
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Microcephaly OMIM:300884
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Proteinuria, Reduced renal corticomed... OMIM:603278
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Growth delay, Renal hypoplasia, Umbilical hernia, Microcephaly, Decreased fetal movement, Absence... OMIM:619758
Basal Ganglia Calcification, Idiopathic, 5
Chorea, Athetosis, Thalamic calcification OMIM:615483
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Postnatal growth retardation, Normal pressure hydrocephalus, Abnormal thalamus morphology, Spasti... ORPHA:300570
Biemond Syndrome Type 2
Delayed puberty, Hydrocephalus, Hypospadias, Short stature ORPHA:141333
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Short stature, Ataxia, Hydrocephalus, Secondary microcephaly OMIM:618174
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Hydrocephalus, Renal agenesis, Renal hypoplasia, Umbilical hernia, Micropenis ORPHA:171839
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Renal hypoplasia/aplasia, Hydranencephaly, Microcephaly, Holoprosencephaly, Decreased fetal movem... ORPHA:2570
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion, Progressive cerebellar ataxia, Dysdiadochokinesis, Gait at... ORPHA:254881
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Short stature, Hydrocephalus, Umbilical hernia ORPHA:1516
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Dandy-Walker Syndrome
Hydrocephalus, Truncal ataxia, Dilated fourth ventricle OMIM:220200
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Hydrocephalus, Decreased thalamic volume, Dilated fourth ventricle, Micr... ORPHA:370959
Nephronophthisis 11
Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Growth delay, Renal tubular... OMIM:613550
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Nephronophthisis, Tubulointerstitial nephritis OMIM:616629
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Hydrocephalus, Short stature, Agenesis of corpus callosum, Ventriculomegaly, Horsesh... OMIM:218350
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Limb ataxia, Thalamic calcification OMIM:618824
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Microcepha... OMIM:609637
Neural Tube Defects, Susceptibility To
Urinary incontinence, Anencephaly, Spina bifida occulta, Hydrocephalus, Myelomeningocele OMIM:182940
Congenital Toxoplasmosis
Hydrocephalus, Microcephaly, Premature birth, Intrauterine growth retardation, Ventriculomegaly ORPHA:858
Houge-Janssens Syndrome 2
Unilateral renal agenesis, Hydrocephalus, Gait ataxia, Microcephaly, Agenesis of corpus callosum,... OMIM:616362
Ritscher-Schinzel Syndrome 1
Single umbilical artery, Decreased response to growth hormone stimulation test, Hypospadias, Hydr... OMIM:220210
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Ren... ORPHA:439232
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Postnatal growth retardation, Large placenta, Polyhydramnios, Umbilical hernia ORPHA:254534
Nephronophthisis 19
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... OMIM:616217
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Hydrocephalus, ... OMIM:609757
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal interstitial fibrosis, Renal cyst, Hyperechoge... OMIM:619902
Leigh Syndrome
3-Methylglutaconic aciduria, Abnormal thalamic MRI signal intensity, Generalized aminoaciduria, R... ORPHA:506
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Ureteral duplication, Nephronophthisis, Rhizomelia, Renal dysplasia, Renal c... OMIM:266920
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Microcephaly, Agenesis of corpus callosum ORPHA:1528
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum OMIM:619302
Joubert Syndrome 5
Occipital encephalocele, Nephronophthisis, Renal cortical cysts, Impaired renal concentrating abi... OMIM:610188
Congenital Syphilis
Large placenta, Hydrops fetalis, Hydrocephalus, CSF pleocytosis, Nephrotic syndrome, Premature bi... ORPHA:499009
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Focal T2 hyperintense thalamic lesion OMIM:613724
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal sensory impairment, Impaired temperature sensation, Hydrocephalus, Impaired pain sensation... ORPHA:99947
Diabetic Embryopathy
Single umbilical artery, Renal hypoplasia/aplasia, Ureteral duplication, Hydrocephalus, Microceph... ORPHA:1926
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Hypospadias, Abnormal thalamus morphology, Short stature, Microcephaly, Micropen... ORPHA:2959
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Single umbilical artery, Breech presentation, Anencephal... OMIM:249000
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Progressive microcephaly, CSF lymphocytic pleiocytosis, Intrauterine growth retard... OMIM:610333
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus, Calcium oxalate nephrolithiasis OMIM:248000
Hydrocephalus, Congenital, 3, With Brain Anomalies
Polyhydramnios, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ven... OMIM:617967
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Polyhydramnios, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Microcephaly, Prematur... OMIM:225790
Intellectual Developmental Disorder, Autosomal Dominant 48
Hypospadias, Dilated fourth ventricle, Microcephaly, Echogenic intracardiac focus, Lateral ventri... OMIM:617751
Restrictive Dermopathy
Short umbilical cord, Large placenta, Ureteral duplication, Small placenta, Hypospadias, Polyhydr... ORPHA:1662
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Agenesis of corpus callosum OMIM:619301
Alexander Disease
Hydrocephalus, Ataxia, Increased CSF protein concentration, Dysmetria OMIM:203450
Emanuel Syndrome
Single umbilical artery, Unilateral renal agenesis, Hydrocephalus, Recurrent urinary tract infect... OMIM:609029
Biemond Syndrome Ii
Short stature, Hydrocephalus OMIM:210350
Diencephalic Syndrome
Hydrocephalus, Long penis ORPHA:1672
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Secondary microcephaly, Decreased thalamic volume OMIM:613668
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Agenesis of corpus callosum OMIM:617542
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Thanatophoric Dysplasia Type 2
Abnormality of the kidney, Polyhydramnios, Encephalocele, Hydrocephalus, Increased nuchal translu... ORPHA:93274
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus, Ataxia, Pain insensitivity, Paresthesia ORPHA:73256
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Microcephaly OMIM:619470
6P22 Microdeletion Syndrome
Hydrocephalus, Hydronephrosis ORPHA:251046
1Q44 Microdeletion Syndrome
Hydrocephalus, Vesicoureteral reflux, Short stature, Growth delay, Microcephaly, Agenesis of corp... ORPHA:238769
Joubert Syndrome 14
Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Renal cyst, Growth delay, A... OMIM:614424
Papillorenal Syndrome
Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithiasis, Renal cyst... OMIM:120330
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum, Umbilical hernia ORPHA:380
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Abnormal renal morphology, Vesicoureteral ... OMIM:609053
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Microcephaly ORPHA:26
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Hydrocephalus, Agenesis of corpus callosum, Umbilical hernia, Ventriculomegaly OMIM:175700
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Ectopic kidney, Hydrocephalus, Renal agenesis, Lateral ventricle dilatation... OMIM:602200
Degcags Syndrome
Abnormal renal medulla morphology, Single umbilical artery, Polyhydramnios, Breech presentation, ... OMIM:619488
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Microcephaly, Decreased thalamic volume OMIM:619072
Temple Syndrome
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hydrocephalu... ORPHA:254516
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:600348
Emanuel Syndrome
Single umbilical artery, Breech presentation, Unilateral renal agenesis, Hydrocephalus, Dandy-Wal... ORPHA:96170
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Rhombencephalosynapsis
Hydrocephalus, Abnormal renal morphology, Fusion of the left and right thalami, Ataxia, Ventricul... ORPHA:59315
Mosaic Trisomy 16
Single umbilical artery, Large placenta, Hypospadias, Premature birth, Intrauterine growth retard... ORPHA:1708
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Short stature, Microcephaly, Holoprosence... ORPHA:1908
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Triploidy
Polyhydramnios, Hypospadias, Meningocele, Hypoplasia of penis, Hydrocephalus, Holoprosencephaly, ... ORPHA:3376
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Polyhydramnios, Hydrocephalus, Short stature, Microcephaly, Colpocephaly, Ataxia, Intrauterine gr... OMIM:619833
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Senior-Loken Syndrome 8
Stage 5 chronic kidney disease, Global glomerulosclerosis, Nephronophthisis, Glomerular subepithe... OMIM:616307
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Hydrops fetalis, Premature birth, Hydrocephalus OMIM:269920
Chiari Malformation Type Ii
Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Ataxia, Agenesis of corpus ca... OMIM:207950
Trisomy 17P
Hypoplasia of penis, Hydrocephalus, Polycystic kidney dysplasia, Short stature, Growth delay, Mic... ORPHA:261290
Senior-Loken Syndrome 3
Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts OMIM:606995
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation, Hydronephrosis, Intrauterine growth retardation, Horses... OMIM:614846
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Hydrocephalus, Proximal tubulopathy, Growth delay, Microcephaly, Hyper... OMIM:614576
Thanatophoric Dysplasia
Abnormality of the kidney, Polyhydramnios, Disproportionate short-limb short stature, Hydrocephal... ORPHA:2655
Methylcobalamin Deficiency Type Cble
Postnatal growth retardation, Glomerulopathy, Hemolytic-uremic syndrome, Hydrocephalus, Microceph... ORPHA:2169
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular acidosis, Microcephaly, Oligohydramnios, Nephrocalcinosis, Renal tubular atrophy, R... OMIM:208085
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Vesicoureteral reflux, Microcephaly, Colpocephaly, Agenesis of corpus... OMIM:619955
Fried Syndrome
Hydrocephalus ORPHA:85335
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Hydrocephalus, Renal cyst, Abnormality of the ureter, Short stature, Ol... ORPHA:1834
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Vitamin K Antagonist Embryofetopathy
Intrauterine growth retardation, Hydrocephalus, Myelomeningocele ORPHA:1914
Czeizel-Losonci Syndrome
Congenital megaureter, Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina bifida, Thick... ORPHA:2437
Trichohepatoenteric Syndrome 1
Large placenta, Polyhydramnios, Hypospadias, Galactosuria, Short stature, Renal cortical microcys... OMIM:222470
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Renal cyst, Oligohydra... OMIM:263200
Mosaic Variegated Aneuploidy Syndrome 1
Postnatal growth retardation, Hypospadias, Multicystic kidney dysplasia, Hydrocephalus, Dandy-Wal... OMIM:257300
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Tubular luminal dilatation, Hydrocephalus, Fetal pericardial effusion, Premature ... OMIM:219730
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology ORPHA:397725
Global Developmental Delay With Or Without Impaired Intellectual Development
Short stature, Hypospadias, Lateral ventricle dilatation OMIM:618330
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus OMIM:618193
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Ectopic kidney, Unilateral renal agenesis, Renal insufficiency, Horseshoe kidney, Vesicoureteral ... OMIM:617641
Intellectual Developmental Disorder, X-Linked 103
Micropenis, Lateral ventricle dilatation OMIM:300982
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly, Agenesis of corpus callosum OMIM:614120
Vacterl Association With Hydrocephalus
Stillbirth, Renal hypoplasia, Aqueductal stenosis, Hydrocephalus OMIM:276950
Kleeblattschaedel
Hydrocephalus OMIM:148800
Congenital Muscular Dystrophy, Fukuyama Type
Intrauterine growth retardation, Ventriculomegaly, Hydrocephalus ORPHA:272
Meckel Syndrome, Type 3
Hydrocephalus, Occipital encephalocele, Dandy-Walker malformation, Multicystic kidney dysplasia OMIM:607361
Lissencephaly 5
Hydrocephalus, Occipital encephalocele OMIM:615191
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Hyperechogenic... OMIM:613159
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus, Nephropathy, Ataxia, Agenesis of corpus callosum, Renal insufficiency ORPHA:220497
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased CSF lactate, Focal T2 hyperintense thalamic lesion, Ataxia OMIM:619046
Papillary Tumor Of The Pineal Region
Hydrocephalus, Episodic ataxia, Increased CSF protein concentration ORPHA:251915
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Ataxia, Gait ataxia ORPHA:1947
Hereditary Cryohydrocytosis With Reduced Stomatin
Postnatal growth retardation, Decreased thalamic volume, Communicating hydrocephalus, Short statu... ORPHA:168577
3C Syndrome
Postnatal growth retardation, Single umbilical artery, Hypospadias, Hypoplasia of penis, Hydrocep... ORPHA:7
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Ventriculomegaly, Hydrocephalus, Gait ataxia OMIM:616355
Senior-Loken Syndrome 1
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Impaired renal concentrating ability, St... OMIM:266900
Trisomy 1Q
Hydrops fetalis, Polyhydramnios, Congenital megaureter, Hydrocephalus, Increased nuchal transluce... ORPHA:261344
Distal Triplication 15Q
Abnormality of the kidney, Hydrocephalus, Polycystic kidney dysplasia, Dandy-Walker malformation,... ORPHA:314588
Panhypophysitis
Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Hyposthenuri... ORPHA:95513
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Neonatal short-trunk short stature, Mesomelic/rhizomelic limb sho... ORPHA:2839
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly, Partial agenesis of the corpus callosum, Microcephaly OMIM:304100
Intellectual Developmental Disorder, X-Linked 30
Short stature, Microcephaly, Hydrocephalus OMIM:300558
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology, Ataxia ORPHA:435638
Cranioectodermal Dysplasia 3
Short stature, Stage 5 chronic kidney disease, Nephronophthisis, Rhizomelia OMIM:614099
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity, CSF pleocytosis, Increased CSF protein concentration ORPHA:363558
Genitopalatocardiac Syndrome
Hypospadias, Hydrocephalus, Microcephaly, Intrauterine growth retardation, Multicystic kidney dys... ORPHA:2075
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Abnormality of the kidney, Hydrocephalus, Dandy-Walker malformation, Enuresis, Short stature, Age... ORPHA:459061
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Hyposthenuri... ORPHA:95512
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Rhizomelic leg shortening, Hypospadias, Meningocele, Renal cortical cyst... ORPHA:397715
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Epispadias, Hypospadias, Encephalocele, Abnormal penis morphology, Exencephaly ORPHA:2211
Hemangioblastoma
Hydrocephalus, Neurogenic bladder, Dysesthesia ORPHA:252054
Fanconi Anemia, Complementation Group R
Growth delay, Pelvic kidney, Microcephaly, Hydrocephalus OMIM:617244
Oxoglutaric Aciduria
Short stature, Abnormal urine alpha-ketoglutarate concentration, Ataxia, Hydrocephalus ORPHA:31
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Polyhydramnios, Hydrocephalus, Hydronephrosis, Neonatal death, Absence of stomac... OMIM:314390
Fanconi Anemia, Complementation Group B
Single umbilical artery, Hydrocephalus, Renal agenesis, Growth delay, Intrauterine growth retarda... OMIM:300514
Temple Syndrome
Intrauterine growth retardation, Premature birth, Short stature, Hydrocephalus OMIM:616222
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Nephropathy, Ataxia, Renal insufficiency ORPHA:2318
Martsolf Syndrome 2
Short stature, Microcephaly, Lateral ventricle dilatation OMIM:619420
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short stature, Hydrocephalus ORPHA:2183
Severe X-Linked Intellectual Disability, Gustavson Type
Severe postnatal growth retardation, Dandy-Walker malformation, Vesicoureteral reflux, Dilated fo... ORPHA:3078
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Short stature, Growth delay, Microcephaly, Decreased fetal movement, Renal tubular... OMIM:614886
Thanatophoric Dysplasia, Type I
Polyhydramnios, Breech presentation, Disproportionate short-limb short stature, Hydrocephalus, 5-... OMIM:187600
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal thalamus morphology ORPHA:404440
Hydranencephaly
Postnatal growth retardation, Dysgenesis of the thalamus, Intrauterine growth retardation, Atroph... ORPHA:2177
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, Umbilical hernia ORPHA:2181
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Secondary microcephaly, Hydrocephalus, Dandy-Walker malformation, Umbilical hernia, Intrauterine ... OMIM:612938
Autosomal Recessive Spastic Paraplegia Type 66
Impaired vibration sensation in the lower limbs, Colpocephaly ORPHA:401815
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Ventriculomegaly, Hydrocephalus OMIM:602501
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:618577
Distal Deletion 10Q
Postnatal growth retardation, Acute kidney injury, Spina bifida occulta, Vesicoureteral reflux, E... ORPHA:96148
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal localization of kidney ORPHA:83473
Japanese Encephalitis
Focal T2 hyperintense thalamic lesion, CSF lymphocytic pleiocytosis, Abnormal thalamus morphology... ORPHA:79139
Marden-Walker Syndrome
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm... ORPHA:2461
Cog5-Cdg
Urinary incontinence, Truncal ataxia, Neurogenic bladder, Short stature, Oligohydramnios, Microce... ORPHA:263487
Adams-Oliver Syndrome 2
Hydrocephalus, Microcephaly, Lateral ventricle dilatation, Decreased fetal movement, Oligohydramnios OMIM:614219
Griscelli Syndrome
Short stature, Hydrocephalus, Ataxia, Encephalocele ORPHA:381
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dandy-Walker malformation, Dilated fourth ventricle, Truncal ataxia OMIM:220220
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Primary microcephaly, Lateral ventricle dilatation, Thickened nu... ORPHA:284417
Multiple Sulfatase Deficiency
Hydrocephalus, Increased CSF protein concentration, Mucopolysacchariduria, Short stature, Ataxia,... OMIM:272200
Holoprosencephaly 7
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Panhypopituitarism, Fusion ... OMIM:610828
Neurooculorenal Syndrome
Postnatal growth retardation, Aqueductal stenosis, Unilateral renal agenesis, Anhydramnios, Hydro... OMIM:620305
Pseudotrisomy 13 Syndrome
Encephalocele, Hydrocephalus, Renal agenesis, Renal hypoplasia, Microcephaly, Holoprosencephaly, ... OMIM:264480
Greenberg Dysplasia
Stillbirth, Large placenta, Hydrops fetalis, Rhizomelia, Polyhydramnios, Disproportionate short-l... OMIM:215140
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity, Impaired distal proprioception, Positive Romberg sign, Ga... ORPHA:70595
Mucopolysaccharidosis, Type Ii
Mild short stature, Hydrocephalus, Dermatan sulfate excretion in urine, Short stature, Severe sho... OMIM:309900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:613153
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Microcephaly OMIM:618302
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Hypoplasia of penis, Hydrocephalus, Growth delay, Holoprosencephaly, Agenesis of cor... ORPHA:77298
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly, Chorea ORPHA:2770
Combined Oxidative Phosphorylation Defect Type 7
Abnormal thalamic MRI signal intensity, Distal sensory impairment, Ataxia ORPHA:254930
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Lateral ventricle dilatation, Umbilical hernia OMIM:618914
Neuroferritinopathy
Abnormal thalamic MRI signal intensity, T2 hypointense thalamus, Increased CSF protein concentrat... ORPHA:157846
Restrictive Dermopathy 1
Short umbilical cord, Stillbirth, Ureteral duplication, Polyhydramnios, Hypospadias, Spontaneous ... OMIM:275210
Pontocerebellar Hypoplasia, Type 1A
Limb ataxia, Ataxia, Microcephaly, Lateral ventricle dilatation OMIM:607596
Pontocerebellar Hypoplasia, Type 12
Polyhydramnios, Primary microcephaly, Lateral ventricle dilatation OMIM:618266
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Holoprosencephaly-Caudal Dysgenesis Syndrome
Microcephaly, Premature birth, Holoprosencephaly, Abnormality of the diencephalon, Renal insuffic... ORPHA:2165
15Q Overgrowth Syndrome
Breech presentation, Hydrocephalus, Abnormal renal morphology, Dandy-Walker malformation, Hydrone... ORPHA:314585
Arachnoiditis
Hydrocephalus, Paresthesia, Urinary bladder sphincter dysfunction ORPHA:137817
Senior-Boichis Syndrome
Tubular luminal dilatation, Renal atrophy, Abnormal renal insterstitial morphology, Renal hypopla... ORPHA:84081
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Hem... ORPHA:1855
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Renal cyst, Short stature, Microcephaly, C... OMIM:617260
Cornelia De Lange Syndrome 1
Ectopic kidney, Hypospadias, Abnormal renal morphology, Vesicoureteral reflux, Renal cyst, Short ... OMIM:122470
Familial Acute Necrotizing Encephalopathy
Abnormal thalamus morphology, Increased CSF protein concentration ORPHA:88619
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Growth delay, Colpocephaly, Absence of stomach bubble on fetal sonography, Agenesi... OMIM:620156
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Dilated third ventricle, Short stature, Microcephaly, Decreased fetal movement, Ve... ORPHA:500055
Acute Disseminated Encephalomyelitis
Abnormal thalamic MRI signal intensity, CSF lymphocytic pleiocytosis, Increased CSF protein conce... ORPHA:83597
Kagami-Ogata Syndrome
Postnatal growth retardation, Polyhydramnios, Large placenta, Premature birth ORPHA:254519
Glutaric Acidemia I
Glutaric aciduria, Hydrocephalus, Lateral ventricle dilatation, Choreoathetosis, Ketonuria OMIM:231670
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Urinary incontinence, Dilated third ventricle, Ataxia, Abnormal cerebrospinal fluid morphology, N... ORPHA:314404
Fg Syndrome Type 1
Hypospadias, Small pituitary gland, Hydrocephalus, Short stature, Premature birth, Umbilical hern... ORPHA:93932
Slc35A2-Cdg
Transient nephrotic syndrome, Abnormal renal morphology, Dandy-Walker malformation, Thickened nuc... ORPHA:356961
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Lateral ventricle dilatation OMIM:615889
Coach Syndrome 2
Hydrocephalus, Hyperechogenic kidneys, Agenesis of corpus callosum OMIM:619111
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Spina bifida occulta, Dandy-Walker malformation, Microcephaly, Agenesis of corpus callosum, Later... OMIM:618736
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro... OMIM:603860
Spondylocostal Dysostosis 4, Autosomal Recessive
Spina bifida occulta, Hydrocephalus, Neurogenic bladder, Myelomeningocele, Short stature OMIM:613686
Meckel Syndrome, Type 6
Occipital encephalocele, Anencephaly, Hydrocephalus, Aplasia of the bladder, Renal cyst, Horsesho... OMIM:612284
Congenital Disorder Of Glycosylation, Type Iig
Postnatal growth retardation, Hemolytic-uremic syndrome, Hypospadias, Rhizomelia, Progressive mic... OMIM:611209
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion ORPHA:79264
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:588
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus, Microcephaly, Secondary microcephaly OMIM:615599
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Short stature, Hydrocephalus ORPHA:2701
Short-Rib Thoracic Dysplasia 12
Polyhydramnios, Anencephaly, Hydrocephalus, Renal hypoplasia, Neonatal death, Holoprosencephaly, ... OMIM:269860
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal renal tubule morphology, Hydrocephalus, Short stature, Ataxia, Abnormality of the dience... ORPHA:2720
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Short stature, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:109120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Microcephaly OMIM:613155
Pontocerebellar Hypoplasia, Type 7
Hydrocephalus, Progressive microcephaly, Ataxia, Ventriculomegaly, Choreoathetosis, Micropenis OMIM:614969
1Q21.1 Microdeletion Syndrome
Hydrocephalus, Vesicoureteral reflux, Short stature, Microcephaly, Hydronephrosis, Agenesis of co... ORPHA:250989
Lowry-Maclean Syndrome
Hypospadias, Hydrocephalus, Microcephaly, Growth delay, Intrauterine growth retardation ORPHA:2409
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, Hydrocephalus, Ataxia... ORPHA:1454
Optic Pathway Glioma
Growth delay, Hydrocephalus ORPHA:2086
Metatropic Dysplasia
Hydrocephalus, Severe short stature ORPHA:2635
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Polyhydramnios, Breech presentation, Primary microcephaly, Short stature, Microcephaly, Lateral v... OMIM:619847
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Disproportionate short-limb short stature, Decreased growth hormone re... OMIM:101800
Mucopolysaccharidosis, Type Vii
Postnatal growth retardation, Hydrops fetalis, Hydrocephalus, Dermatan sulfate excretion in urine... OMIM:253220
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts, Agenesis of corpus callosum OMIM:618733
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Hydrocephalus, Myoglobinuria, Polycystic kidney dysplasia, Red... ORPHA:157
Dyssegmental Dysplasia, Silverman-Handmaker Type
Single umbilical artery, Hydrops fetalis, Encephalocele, Hydrocephalus, Microcephaly, Severe shor... ORPHA:1865
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Hydrocephalus, Rhizomelia, Short stature OMIM:300863
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Urinary incontinence, Rhizomelia, Breech presentation, Hydrocephalus, Neonatal death, Severe shor... OMIM:616482
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Hydrops fetalis, Polyhydramnios, Decreased glomerular filtration ra... OMIM:602522
Congenital Sialidosis Type 2
Abnormality of the kidney, Hydrocephalus, Ataxia, Umbilical hernia, Dysmetria ORPHA:93400
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Disproportionate short-trunk short stature, Microcephaly, Hydrocephalus OMIM:613330
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus, Hypospadias, Umbilical hernia OMIM:601499
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Secondary microcephaly ORPHA:397951
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Hydrocephalus, Growth delay, Agenesis of corpus callosum, Lateral v... OMIM:612863
Myopathy, Centronuclear, X-Linked
Polyhydramnios, Low 1-minute APGAR score, Hydrocephalus, Dandy-Walker malformation, Caesarian sec... OMIM:310400
Craniosynostosis 6
Spina bifida occulta, Dandy-Walker malformation, Microcephaly, Agenesis of corpus callosum, Later... OMIM:616602
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Enlarged kidney, Ureteral duplication, Large placenta, Polyhydramnios, ... ORPHA:116
Hydrolethalus
Polyhydramnios, Anencephaly, Hydrocephalus, Premature birth, Agenesis of corpus callosum ORPHA:2189
Meningioma
Enlarged pituitary gland, Urinary incontinence, Reduced circulating prolactin concentration, Incr... ORPHA:2495
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hydrocephalus, Myoglobinuria, Polycysti... ORPHA:228308
Posterior Urethral Valve
Postnatal growth retardation, Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary... ORPHA:93110
Aceruloplasminemia
Limb ataxia, Abnormal thalamic MRI signal intensity, Chorea, Gait ataxia, Ataxia ORPHA:48818
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus, Ureteral triplication, Hydronephrosis, Umbilical hernia OMIM:104350
Desmosterolosis
Renal hypoplasia/aplasia, Hydrocephalus, Renal agenesis, Growth delay, Microcephaly, Severe short... ORPHA:35107
Holoprosencephaly-Postaxial Polydactyly Syndrome
Renal hypoplasia/aplasia, Polyhydramnios, Hypospadias, Encephalocele, Hypoplasia of penis, Hydroc... ORPHA:2166
Bilateral Generalized Polymicrogyria
Short stature, Microcephaly, Lateral ventricle dilatation, Growth delay ORPHA:208447
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Polyhydramnios, Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation, Lateral ventr... OMIM:618291
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Postnatal growth retardation, Secondary microcephaly, Short stature, Colpocephaly, Agenesis of co... OMIM:620113
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Vesicoureteral reflux, Renal cyst, Short stature, Renal hypoplasia, Microce... OMIM:618460
Halperin-Birk Syndrome
Semilobar holoprosencephaly, Colpocephaly, Agenesis of corpus callosum, Umbilical hernia, Intraut... OMIM:618651
Fraser Syndrome 3
Stillbirth, Sonographic non-visualized fetal bladder, Hypoplasia of penis, Hydrocephalus, Bilater... OMIM:617667
Arachnoid Cyst
Urinary incontinence, Distal sensory impairment, Encephalocele, Hydrocephalus, Urinary bladder sp... ORPHA:2356
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Growth delay, Abnormal thalamic MRI signal intensity, Secondary microcephaly ORPHA:485421
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Short stature, Unilateral renal agenesis, Communicating hydrocephalus ORPHA:1064
Cutis Laxa, Autosomal Recessive, Type Iib
Intrauterine growth retardation, Hydrocephalus, Microcephaly, Agenesis of corpus callosum OMIM:612940
Lateral Meningocele Syndrome
Meningocele, Hydrocephalus, Neurogenic bladder, Short stature, Umbilical hernia OMIM:130720
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary aminoisobutyric acid, Beta-alaninuria, Microcephaly, Elevated urinary 3-hydroxyi... OMIM:614105
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrops fetalis, Polyhydramnios, Anencephaly, Hydrocephalus, Polycystic kidney dysplasia, Occipit... OMIM:616546
Functioning Gonadotropic Adenoma
Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary gonadotropic ce... ORPHA:91348
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Decreased fetal movement OMIM:616816
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Colpocephaly OMIM:618731
Pettigrew Syndrome
Fetal distress, Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Gait ataxia, Micro... OMIM:304340
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Umbilical hernia OMIM:612582
Stromme Syndrome
Stillbirth, Hydrocephalus, Microcephaly, Hydronephrosis, Agenesis of corpus callosum, Bilateral r... OMIM:243605
Tay-Sachs Disease
Abnormal thalamic MRI signal intensity, Ventriculomegaly, Dysmetria ORPHA:845
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus, Vesicoureteral reflux, Micropenis, Unilateral renal agenesis OMIM:619951
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Growth delay, Nephrocalcinosis, Ataxia, Aminoaciduria OMIM:616084
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Polycystic kidney dysplasia, Choroid plexus cyst, Hyperechogenic kidneys, Ventricu... OMIM:617866
Pentalogy Of Cantrell
Anencephaly, Hypospadias, Encephalocele, Hydrocephalus, Renal agenesis, Renal dysplasia ORPHA:1335
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Abnormality of the kidney, Urinary incontinence, Bifid pen... ORPHA:322
Thanatophoric Dysplasia Type 1
Abnormality of the kidney, Polyhydramnios, Hydrocephalus, Increased nuchal translucency, Ventricu... ORPHA:1860
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Intrauterine growth retardation, Hydrocephalus, Rhizomelia, Short stature ORPHA:163966
Vacterl With Hydrocephalus
Single umbilical artery, Aqueductal stenosis, Renal hypoplasia/aplasia, Polyhydramnios, Hydroceph... ORPHA:3412
Microcephaly 29, Primary, Autosomal Recessive
Reduced renal corticomedullary differentiation, Primary microcephaly, Hyperechogenic kidneys, Ataxia OMIM:620047
Multiple Sulfatase Deficiency
Mucopolysacchariduria, Hydrocephalus, Microcephaly, Short stature ORPHA:585
Walker-Warburg Syndrome
Hypoplasia of penis, Hydrocephalus, Dandy-Walker malformation, Microcephaly, Agenesis of corpus c... ORPHA:899
Fanconi Anemia, Complementation Group D2
Ectopic kidney, Duplicated collecting system, Hydrocephalus, Pelvic kidney, Short stature, Renal ... OMIM:227646
Mirage Syndrome
Hypospadias, Hydrocephalus, Recurrent urinary tract infections, Microphallus, Short stature, Intr... OMIM:617053
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Growth delay, Microcephaly, Lateral ventricle dilatation OMIM:615716
D-2-Hydroxyglutaric Aciduria 1
Glutaric aciduria, Subependymal cysts, Elevated CSF D-2-hydroxyglutaric acid concentration, Later... OMIM:600721
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Pelvic kidney, Dandy-Walker malformation, Hydronephrosis, Agenesis of corpus callosum OMIM:613001
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Polyhydramnios, Hypospadias, Hydrocephalus, Microphallus, Hyperechogenic kidneys... OMIM:612651
Aicardi-Goutieres Syndrome 9
Glomerular sclerosis, Renal insufficiency, Recurrent urinary tract infections, Thickened glomerul... OMIM:619487
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Microcephaly, Breech presentation, Lateral ventricle dilatation OMIM:618890
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Urinary incontinence, Lateral ventricle dilatation OMIM:221770
Joubert Syndrome With Ocular Defect
Hydrocephalus, Agenesis of corpus callosum, Ataxia, Encephalocele ORPHA:220493
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Decreased glomerular filtration rate, Progressive microcephaly, Nephr... ORPHA:488627
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus, Urinary incontinence OMIM:236690
Cole-Carpenter Syndrome 2
Short stature, Oligohydramnios, Postnatal growth retardation, Hydrocephalus OMIM:616294
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Polyhydramnios, Multicystic kidney dysplasia, Agenesis of corpus callosum ORPHA:3301
Orofaciodigital Syndrome I
Hydrocephalus, Polycystic kidney dysplasia, Hypothalamic hamartoma, Myelomeningocele, Short statu... OMIM:311200
Plasminogen Deficiency, Type I
Hydrocephalus, Dandy-Walker malformation, Nephrolithiasis, Nephritis, Ventriculomegaly OMIM:217090
Radial Aplasia, X-Linked
Hydrocephalus, Penile hypospadias OMIM:312190
Monosomy 18Q
Hydrocephalus, Short stature, Secondary growth hormone deficiency, Growth delay, Microcephaly, Ch... ORPHA:1600
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Glutaryl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Subependymal nodules, Chorea, Athetosis, Communicating hydrocephalus, Ataxia, ... ORPHA:25
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Polyhydramnios, Hypoplasia of penis, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:1812
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... OMIM:174000
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Hypospadias, Short stature, Microcephaly, Colpocephaly, Ataxia, Congenital posterior urethral val... OMIM:620083
Cousin Syndrome
Rhizomelia, Hydranencephaly, Hydrocephalus, Hydronephrosis, Disproportionate short stature OMIM:260660
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Hydrops fetalis, Hemolytic-uremic syndrome, Hydrocephalus, Growth delay, Microcep... ORPHA:79282
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus, Ataxia, Agenesis of corpus callosum OMIM:619320
Dubowitz Syndrome
Postnatal growth retardation, Hypospadias, Spina bifida occulta, Hydrocephalus, Short stature, Mi... ORPHA:235
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele, Small pituitary gland OMIM:614195
Craniopharyngioma
Delayed puberty, Postnatal growth retardation, Enlarged pituitary gland, Hydrocephalus, Pituitary... ORPHA:54595
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Communicating hyd... OMIM:615287
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Agenesis of corpus callosum ORPHA:2182
Hurler Syndrome
Hydrocephalus, Dermatan sulfate excretion in urine, Short stature, Umbilical hernia, Urinary glyc... OMIM:607014
Thoracic Dysplasia-Hydrocephalus Syndrome
Short stature, Ataxia, Communicating hydrocephalus ORPHA:1861
Pontocerebellar Hypoplasia, Type 13
Microcephaly, Dandy-Walker malformation, Lateral ventricle dilatation, Gait ataxia OMIM:618606
Gracile Bone Dysplasia
Short stature, Micropenis, Hydrocephalus OMIM:602361
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Renal tubular acidosis, Hydrocephalus, Dilated third ventricle, Short stature, Caesarian section,... OMIM:619575
Thakker-Donnai Syndrome
Intrauterine growth retardation, Hydronephrosis, Agenesis of corpus callosum, Communicating hydro... ORPHA:1780
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Postnatal growth retardation, Large placenta, Polyhydramnios, Short stature, Growth delay, Microc... ORPHA:96334
Den Hoed-De Boer-Voisin Syndrome
Secondary microcephaly, Recurrent urinary tract infections, Microcephaly, Abnormality of prenatal... OMIM:619229
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity ORPHA:444013
Holoprosencephaly
Encephalocele, Hypoplasia of penis, Anterior hypopituitarism, Branchial anomaly, Hydrocephalus, D... ORPHA:2162
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Polyhydramnios, Unilateral renal agenesis, Communicating hydrocephalus, Umbilica... OMIM:618188
Dural Sinus Malformation
Hydrocephalus, Somatic sensory dysfunction, Ataxia, Myelopathy ORPHA:97339
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation, Premature birth ORPHA:79332
Fanconi Anemia
Renal hypoplasia/aplasia, Hydroureter, Abnormal preputium morphology, Hypospadias, Abnormality of... ORPHA:84
Peters Plus Syndrome
Postnatal growth retardation, Decreased fetal movement, Ureteral duplication, Rhizomelia, Hypospa... ORPHA:709
Bickerstaff Brainstem Encephalitis
Abnormal thalamic MRI signal intensity, Impaired proprioception, Dysesthesia, CSF pleocytosis, In... ORPHA:79138
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Peroxisome Biogenesis Disorder 5A (Zellweger)
Fetal distress, Hypospadias, Polycystic kidney dysplasia, Athetosis, Renal cyst, Renal cortical m... OMIM:614866
Albers-Schönberg Osteopetrosis
Short stature, Hydrocephalus ORPHA:53
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Neonatal short-limb short stature, Hydrocephalus, Severe short stature, Encephalocele OMIM:224400
Glutamine Deficiency, Congenital
Decreased CSF glutamine concentration, Subependymal cysts, Neonatal death, Lateral ventricle dila... OMIM:610015
Joubert Syndrome
Hydrocephalus, Ataxia, Encephalocele ORPHA:475
47,Xyy Syndrome
Hydrocephalus, Increased circulating gonadotropin level, Micropenis, Hypospadias ORPHA:8
Iniencephaly
Polyhydramnios, Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation,... ORPHA:63259
Duplication Of The Pituitary Gland
Polyhydramnios, Encephalocele, Abnormal pituitary gland morphology, Short stature, Abnormal hypot... ORPHA:314621
Kabuki Syndrome
Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting system, Hypoplasia of penis, Hydroce... ORPHA:2322
Raine Syndrome
Hydroureter, Hydrocephalus, Short stature, Microcephaly, Hydronephrosis, Neonatal death OMIM:259775
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Hydrocephalus, Communicating hydrocephalus, Microcephaly, Colpocephaly, Agenesis of corpus callos... OMIM:615219
Paganini-Miozzo Syndrome
Urinary incontinence, Lateral ventricle dilatation OMIM:301025
Amelocerebrohypohidrotic Syndrome
Short stature, Hydrocephalus ORPHA:1946
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Micropenis OMIM:617822
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Enuresis, Occipital meningo... ORPHA:268810
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Decreased response to growth hormone stimulation test, Breech presentation, Distal sensory impair... OMIM:616007
Otopalatodigital Syndrome Type 2
Hypospadias, Encephalocele, Hydrocephalus, Myelomeningocele, Ureteral obstruction, Hydronephrosis ORPHA:90652
Smith-Lemli-Opitz Syndrome
Breech presentation, Microcephaly, Premature birth, Colpocephaly, Decreased fetal movement, Intra... OMIM:270400
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Hydrocephalus, Growth delay, Renal hypoplasia, Intrauterine growth ret... OMIM:614083
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Decreased CSF asialotransferrin to transferrin ratio, Lateral ventricle ... OMIM:620315
H Syndrome
Delayed puberty, Abnormality of the kidney, Enlarged kidney, Hydrocephalus, Short stature, Microp... ORPHA:168569
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Microcephaly ORPHA:398189
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation OMIM:619517
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Fusion of the left and right thalami, Secondary microcephaly OMIM:619306
Tuberous Sclerosis 2
Subependymal nodules, Renal cell carcinoma, Renal cyst, Renal angiomyolipoma, Absence of renal co... OMIM:613254
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Dandy-Walker malformation, Ataxia, Agenesis of corpus callosum, Ventriculomegaly OMIM:618476
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
African Trypanosomiasis
Somatic sensory dysfunction, Impaired proprioception, Urinary incontinence, Abnormal prolactin le... ORPHA:3385
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary agenesis, Alobar holopr... OMIM:610829
Koolen-De Vries Syndrome Due To A Point Mutation
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypospadias,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypospadias,... ORPHA:363958
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Hydrocephalus, Short stature, Microcephaly, Chordee, Colpocephaly, Agenesis of corpu... OMIM:309801
Hydrocephalus, Congenital, X-Linked
Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum OMIM:307000
Opitz-Kaveggia Syndrome
Hypospadias, Hydrocephalus, Short stature, Umbilical hernia, Partial agenesis of the corpus callosum OMIM:305450
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Spina bifida, Umbilical hernia, Microcephaly, Decreased fetal movement, Oligohydra... OMIM:613776
Melanosis, Neurocutaneous
Hydrocephalus, Dandy-Walker malformation, Choroid plexus papilloma OMIM:249400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Progressive microcephaly, Microcephaly, Agenesis of corpus callosum OMIM:615249
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Stillbirth, Disproportionate short stature, Breech presentation, Severe postnatal growth retardat... OMIM:210710
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Hydrops fetalis, Polyhydramnios, Oligohydramnios ORPHA:163596
Leptin Receptor Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,... OMIM:614963
7Q11.23 Microduplication Syndrome
Unilateral renal agenesis, Hypospadias, Hydrocephalus, Enuresis, Short stature, Growth delay, Hyd... ORPHA:96121
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Homocystinuria, Hydrocephalus, Microcephaly, Ataxia, Ventriculomegaly ORPHA:395
Wars2-Related Combined Oxidative Phosphorylation Defect
Athetosis, Dilated fourth ventricle, Ataxia, Lateral ventricle dilatation, Intrauterine growth re... ORPHA:572798
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Hydrocephalus, Dermatan sulfate excretion in urine, Short stature, Caesarian... OMIM:253200
Mucopolysaccharidosis Type 1
Mucopolysacchariduria, Hydrocephalus, Short stature, Paresthesia ORPHA:579
Crouzon Syndrome
Hydrocephalus ORPHA:207
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary tract infect... ORPHA:731
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity ORPHA:309155
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus, Microcephaly OMIM:620157
Osteopathia Striata With Cranial Sclerosis
Polyhydramnios, Multicystic kidney dysplasia, Spina bifida occulta, Hydrocephalus, Short stature,... OMIM:300373
Tenorio Syndrome
Hydrocephalus, Ventriculomegaly, Enuresis OMIM:616260
Meckel Syndrome
Ureteral duplication, Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Micro... ORPHA:564
Cardiofaciocutaneous Syndrome 1
Polyhydramnios, Hydrocephalus, Short stature, Hydronephrosis, Premature birth OMIM:115150
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hydrocephalus, Lateral ventricular asymmetry, Premature birth, Intrauterine growth retardation, O... OMIM:616914
Icf Syndrome
Short stature, Communicating hydrocephalus, Umbilical hernia ORPHA:2268
Hajdu-Cheney Syndrome
Hypospadias, Hydrocephalus, Polycystic kidney dysplasia, Renal cyst, Short stature, Umbilical hernia OMIM:102500
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Impaired pain sensation, ... ORPHA:293987
X-Linked Intellectual Disability, Wilson Type
Growth delay, Microcephaly, Lateral ventricle dilatation ORPHA:85290
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Neurogenic bladder, Dermal sinus tract, Myelomeningocel... OMIM:600145
Mosaic Trisomy 1
Single umbilical artery, Polyhydramnios, Renal cortical cysts, Renal cyst, Increased nuchal trans... ORPHA:1692
Malan Overgrowth Syndrome
Ventriculomegaly, Episodic ataxia, Lateral ventricle dilatation ORPHA:420179
Oeis Complex
Epispadias, Hydroureter, Duplicated collecting system, Vesicovaginal fistula, Hydrocephalus, Pelv... OMIM:258040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Microcephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:613150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Meningoencephalocele, Microcep... OMIM:236670
Cardiofaciocutaneous Syndrome
Short stature, Hydronephrosis, Premature birth, Hydrocephalus ORPHA:1340
Thoracoabdominal Syndrome
Renal agenesis, Anencephaly, Hypospadias, Hydrocephalus OMIM:313850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Hydrocephalus, Dandy-Walker malformation, Decreased fetal movement, Ventriculomega... OMIM:614643
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydrops fetalis, Hydranencephaly, Hydrocephalus, Dilated third ventricle, Short stature, Microcep... OMIM:620371
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi... OMIM:600740
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Abnormal preputium morphology, Glandular hypospadias, Primary microcephaly, Choroid plexus cyst, ... ORPHA:293725
Limb Body Wall Complex
Short umbilical cord, Abnormality of the kidney, Single umbilical artery, Anencephaly, Encephaloc... ORPHA:2369
Combined Oxidative Phosphorylation Defect Type 39
Intrauterine growth retardation, Increased CSF lactate, Microcephaly, Lateral ventricle dilatation ORPHA:565624
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Acute kidney injury, Hemolytic-uremic syndrome, Hematuria, Homocystinuria, Cystathioninuria, Hydr... OMIM:277400
Knobloch Syndrome
Hydrocephalus, Occipital encephalocele, Vesicoureteral reflux, Bifid ureter ORPHA:1571
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Hydrops fetalis, Ectopic kidney, Agenesis of corpus callosum ORPHA:268249
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus, Polyhydramnios, Breech presentation, Neonatal death, Decreased fet... OMIM:620351
Tetrasomy 5P
Postnatal growth retardation, Hydrocephalus ORPHA:3309
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus, Abnormal renal morphology, Athetosis OMIM:239300
Hydrolethalus Syndrome 1
Stillbirth, Polyhydramnios, Anencephaly, Hypospadias, Dandy-Walker malformation, Hydronephrosis, ... OMIM:236680
Developmental And Epileptic Encephalopathy 49
Dysplastic corpus callosum, Hydrocephalus, Dandy-Walker malformation, Microcephaly, Ventriculomegaly OMIM:617281
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly, Encephalocele OMIM:253800
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Stillbirth, Unilateral renal agenesis, Hypospadias, Abnormality of the urinary s... ORPHA:95699
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Gabriele-De Vries Syndrome
Intrauterine growth retardation, Ureteropelvic junction obstruction, Hydronephrosis, Lateral vent... OMIM:617557
Cole-Carpenter Syndrome 1
Short stature, Hydrocephalus, Communicating hydrocephalus OMIM:112240
Achondroplasia
Disproportionate short stature, Rhizomelia, Hydrocephalus ORPHA:15
Adams-Oliver Syndrome
Hydrocephalus, Premature birth, Encephalocele ORPHA:974
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Hydrocephalus, Short stature, Growth delay, Microcephaly, Ventriculomegaly OMIM:259720
Dextrocardia
Hydrocephalus, Abnormal renal morphology, Abnormality of the ureter ORPHA:1666
Jacobsen Syndrome
Hypospadias, Hydrocephalus, Microcephaly, Holoprosencephaly, Intrauterine growth retardation OMIM:147791
Mucopolysaccharidosis Type 3
Hydrocephalus, Mucopolysacchariduria, Ataxia, Umbilical hernia, Ventriculomegaly, Urinary glycosa... ORPHA:581
Apert Syndrome
Hydrocephalus, Rhizomelic arm shortening, Hydronephrosis, Agenesis of corpus callosum, Ventriculo... OMIM:101200
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Short stature, Renal hypoplasia, Microcephaly, Intrauterine growth retardation, Mi... OMIM:619321
Trisomy 8P
Hydrocephalus, Dandy-Walker malformation, Microcephaly, Nephrocalcinosis, Hydronephrosis, Fetal p... ORPHA:264450
22Q11.2 Deletion Syndrome
Polyhydramnios, Hypospadias, Meningocele, Hydrocephalus, Polycystic kidney dysplasia, Vesicourete... ORPHA:567
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Hydrocephalus, Short stature, Microcephaly, Hydronephrosis, Micropenis ORPHA:163979
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Increased CSF lactate, Hydrocephalus, Hyperglycorrhachia ORPHA:90065
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Dilated third ventricle, Microcephaly, Hydronephrosis, Agenesis of corpus callosum, ... ORPHA:464738
Weiss-Kruszka Syndrome
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:618619
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Short stature, Ataxia, Microcephaly, Hydrocephalus ORPHA:220295
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Ventriculomegaly, Hypospadias, Agenesis of corpus callosum OMIM:123790
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus, Umbilical hernia ORPHA:1555
Osteogenesis Imperfecta
Rhizomelia, Hypercalciuria, Hydrocephalus, Nephrolithiasis, Short stature, Growth delay, Ataxia, ... ORPHA:666
Hajdu-Cheney Syndrome
Delayed puberty, Hypospadias, Hydrocephalus, Short stature, Multiple renal cysts, Umbilical hernia ORPHA:955
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Lateral ventricle dilatation, ... OMIM:613154
Cockayne Syndrome A
Normal pressure hydrocephalus, Renal insufficiency, Severe postnatal growth retardation, Short st... OMIM:216400
Oculocerebrocutaneous Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Developmental And Epileptic Encephalopathy 31B
Secondary microcephaly, Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:620352
Isotretinoin-Like Syndrome
Intrauterine growth retardation, Postnatal growth retardation, Microcephaly, Hydrocephalus ORPHA:2306
Cerebrooculonasal Syndrome
Postnatal growth retardation, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Ventriculo... OMIM:605627
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:603387
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormality of the kidney, Abnormal renal cortex morphology, Thalamic hemorrhage ORPHA:464321
Cerebral Visual Impairment
Hydrocephalus, Premature birth, Microcephaly ORPHA:447788
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Renal artery stenosis, Spina bifida, Short stature OMIM:162200
Chilton-Okur-Chung Neurodevelopmental Syndrome
Decreased fetal movement, Polyhydramnios, Cephalohematoma, Hypospadias, Recurrent urinary tract i... OMIM:619841
Hurler Syndrome
Mucopolysacchariduria, Hydrocephalus, Short stature, Growth delay ORPHA:93473
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Unilateral renal agenesis, Hydrocephalus, Short stature, Microcephaly, Prema... OMIM:154400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Hydrocephalus, Nephrotic syndrome, Proteinuria, Heavy proteinuria, Urinary glyco... ORPHA:505248
Kabuki Syndrome 1
Postnatal growth retardation, Hydrocephalus, Short stature, Growth delay, Microcephaly, Ureterope... OMIM:147920
Desmosterolosis
Rhizomelia, Hydrocephalus, Microcephaly, Ventriculomegaly, Partial agenesis of the corpus callosum OMIM:602398
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:60040
Cockayne Syndrome B
Postnatal growth retardation, Normal pressure hydrocephalus, Renal insufficiency, Microcephaly, S... OMIM:133540
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Neural tube defect, Hydrocephalus, Panhypo... ORPHA:220386
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Neural tube defect, Hydrocephalus, Panhypo... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Neural tube defect, Hydrocephalus, Panhypo... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Neural tube defect, Hydrocephalus, Panhypo... ORPHA:93924
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Cole-Carpenter Syndrome
Intrauterine growth retardation, Short stature, Communicating hydrocephalus ORPHA:2050
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Heterotaxy, Visceral, 1, X-Linked
Aqueductal stenosis, Enlarged kidney, Polyhydramnios, Hydrocephalus, Myelomeningocele, Renal agen... OMIM:306955
Achondroplasia
Neonatal short-limb short stature, Polyhydramnios, Rhizomelia, Hydrocephalus, Premature rupture o... OMIM:100800
Medulloblastoma
Progressive cerebellar ataxia, Hydrocephalus, Cerebellar ataxia associated with quadrupedal gait,... ORPHA:616
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypospadias, Small pituitary gland, Disproportionate short-limb short stature, Lateral ventricle ... OMIM:619479
Peho Syndrome
Hydrocephalus, Ventriculomegaly, Microcephaly ORPHA:2836
Peters-Plus Syndrome
Postnatal growth retardation, Ureteral duplication, Rhizomelia, Hypospadias, Disproportionate sho... OMIM:261540
Aymé-Gripp Syndrome
Postnatal growth retardation, Hydrocephalus, Short stature, Proteinuria, Ventriculomegaly ORPHA:1272
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Ventriculomegaly, Unilateral renal agenesis, Agenesis of corpus callosum ORPHA:457284
Alagille Syndrome 1
Duplicated collecting system, Renal tubular acidosis, Vesicoureteral reflux, Renal artery stenosi... OMIM:118450
Tetrasomy 9P
Hydrocephalus, Recurrent urinary tract infections, Dandy-Walker malformation, Renal dysplasia, Hy... ORPHA:3310
Mend Syndrome
Short stature, Dandy-Walker malformation, Crossed fused renal ectopia, Hydrocephalus OMIM:300960
Osteootohepatoenteric Syndrome
Hydrocephalus, Grade II vesicoureteral reflux, Proteinuria OMIM:619377
Alexander Disease
Aqueductal stenosis, Hydrocephalus, Chorea, Ataxia, Agenesis of corpus callosum ORPHA:58
Distal 22Q11.2 Microduplication Syndrome
Hydrocephalus, Branchial fistula, Unilateral renal agenesis, Microcephaly ORPHA:261337
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Microcephaly, Agenesis of corpus callosum, Dilated third ventricle, Lateral ventricle dilatation OMIM:619244
Monosomy 9Q22.3
Nephroblastoma, Ventriculomegaly, Hydrocephalus, Umbilical hernia ORPHA:77301
Campomelic Dysplasia
Neonatal short-limb short stature, Polyhydramnios, Hypospadias, Disproportionate short-limb short... OMIM:114290
Aicardi Syndrome
Postnatal growth retardation, Dandy-Walker malformation, Choroid plexus cyst, Dilated third ventr... OMIM:304050
Muenke Syndrome
Hydrocephalus ORPHA:53271
Whipple Disease
Hydrocephalus, Ataxia ORPHA:3452
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Polyhydramnios, Dilated third ventricle, Partial agenesis of the corpus callosum, Lateral ventric... OMIM:617296
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Polyhydramnios, Communicating hydrocephalus OMIM:600559
Focal Dermal Hypoplasia
Ureteral duplication, Spina bifida occulta, Hydrocephalus, Myelomeningocele, Short stature, Micro... OMIM:305600
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus, Microcephaly, Umbilical hernia OMIM:182212
Holoprosencephaly 14
Aqueductal stenosis, Subependymal cysts, Alobar holoprosencephaly, Hydrocephalus, Dandy-Walker ma... OMIM:619895
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Short stature, Lateral ventricle dilatation OMIM:619995
Mayer-Rokitansky-Kuster-Hauser Syndrome
Reduced renal corticomedullary differentiation, Multicystic kidney dysplasia, Renal cyst, Renal m... OMIM:277000
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Abnormal placenta morphology, Hematuria, Hypospadias, Hydrocephalus, Microcephal... OMIM:619475
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Fontaine Progeroid Syndrome
Hydrocephalus, Short stature, Oligohydramnios, Microcephaly, Neonatal death, Umbilical hernia, In... OMIM:612289
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short umbilical cord, Short stature, Nuchal cord, Microcephaly, Lateral ventricle dilatation OMIM:618367
Prader-Willi Syndrome Due To Translocation
Abnormality of the kidney, Decreased response to growth hormone stimulation test, Anterior pituit... ORPHA:177907
Otopalatodigital Syndrome, Type Ii
Postnatal growth retardation, Stillbirth, Hypospadias, Hydrocephalus, Spina bifida, Short stature... OMIM:304120
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy, Ataxia OMIM:604121
Marshall-Smith Syndrome
Hydrocephalus, Short stature, Agenesis of corpus callosum, Umbilical hernia, Ventriculomegaly OMIM:602535
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Hypospadias, Hydrocephalus, Dilatation of ... ORPHA:3455
Lenz-Majewski Hyperostotic Dwarfism
Epispadias, Hypospadias, Hydrocephalus, Severe short stature, Agenesis of corpus callosum, Abnorm... ORPHA:2658
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Fraser Syndrome 1
Renal hypoplasia/aplasia, Hypospadias, Encephalocele, Hydrocephalus, Myelomeningocele, Microcepha... OMIM:219000
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Helsmoortel-Van Der Aa Syndrome
Enlarged kidney, Decreased response to growth hormone stimulation test, Recurrent urinary tract i... OMIM:615873
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Hydrocephalus, Microcephaly, Fetal pyelectasis, Agenesis of corpus callosum,... OMIM:619512
Alpha-Mannosidosis, Infantile Form
Recurrent urinary tract infections, Communicating hydrocephalus, Ataxia, Umbilical hernia, Oligos... ORPHA:309282
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Short stature, Rhizomelia, Hydrocephalus OMIM:245600
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus, Enlarged kidney, Breech presentation OMIM:261740
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Postnatal growth retardation, Renal neoplasm, Oligohydramnios, Hydrocephalus ORPHA:536467
Wolf-Hirschhorn Syndrome
Hypospadias, Severe postnatal growth retardation, Hydrocephalus, Short stature, Growth delay, Mic... OMIM:194190
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Panh... ORPHA:91350
Lymphangioleiomyomatosis
Renal neoplasm, Hematuria, Hydrocephalus, Multiple renal cysts, Abnormal urinary color, Renal ang... ORPHA:538
Yunis-Varon Syndrome
Postnatal growth retardation, Hydrops fetalis, Polyhydramnios, Hypospadias, Hydrocephalus, Primar... ORPHA:3472
Primary Ciliary Dyskinesia
Hydrocephalus, Ventriculomegaly ORPHA:244
Apert Syndrome
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum ORPHA:87
Tuberous Sclerosis Complex
Abnormality of the kidney, Subependymal nodules, Polycystic kidney dysplasia, Renal cell carcinom... ORPHA:805
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Ventriculomegaly, Polyhydramnios, Microcephaly OMIM:613603
Rabin-Pappas Syndrome
Hydrocephalus, Microcephaly OMIM:620155
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Secondary microcephaly, Hypospadias, Urogenital sinus anomaly, Chorde... OMIM:618820
Microphthalmia With Linear Skin Defects Syndrome
Epispadias, Hypospadias, Hydrocephalus, Growth delay, Microcephaly, Severe short stature, Agenesi... ORPHA:2556
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Williams Syndrome
Hypoplasia of penis, Microcephaly, Nephrocalcinosis, Ataxia, Multiple renal cysts, Abnormal tubul... ORPHA:904
Hec Syndrome
Polyhydramnios, Premature birth, Communicating hydrocephalus ORPHA:2119
Histiocytoid Cardiomyopathy
Hydrocephalus, Agenesis of corpus callosum, Renal cyst ORPHA:137675
Coccidioidomycosis
Abnormality of the kidney, Abnormality of the bladder, Hydrocephalus, CSF lymphocytic pleiocytosi... ORPHA:228123
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Roberts-Sc Phocomelia Syndrome
Postnatal growth retardation, Stillbirth, Polyhydramnios, Hypospadias, Long penis, Hydrocephalus,... OMIM:268300
Townes-Brocks Syndrome 1
Hypospadias, Renal insufficiency, Hydrocephalus, Vesicoureteral reflux, Microcephaly, Renal hypop... OMIM:107480
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Postnatal growth retardation, Abnormality of the kidney, Abnormal lateral ventricle morphology, P... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Postnatal growth retardation, Abnormality of the kidney, Abnormal lateral ventricle morphology, P... ORPHA:353277
Pseudoaminopterin Syndrome
Short stature, Horseshoe kidney, Hydrocephalus ORPHA:221120
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Abnormal renal morphology OMIM:207410
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Microphthalmia With Limb Anomalies
Short stature, Horseshoe kidney, Hydrocephalus ORPHA:1106
Gaucher Disease
Delayed puberty, Hydrops fetalis, Hematuria, Hydrocephalus, Short stature, Ataxia, Proteinuria, V... ORPHA:355
Shprintzen-Goldberg Syndrome
Microcephaly, Ventriculomegaly, Communicating hydrocephalus, Umbilical hernia ORPHA:2462
Hydrocephaly-Low Insertion Umbilicus Syndrome
Abnormality of the urinary system, Communicating hydrocephalus ORPHA:2184
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Secondary microcephaly, Fetal distress, Bilateral fetal pyelectasis, Hydrops fetalis, Breech pres... OMIM:300868
Orofaciodigital Syndrome Ii
Short stature, Hydrocephalus OMIM:252100
Biliary, Renal, Neurologic, And Skeletal Syndrome
Fetal distress, Aqueductal stenosis, Polyhydramnios, Hydrocephalus, Anterior pituitary hypoplasia... OMIM:619534
Full Nf2-Related Schwannomatosis
Hydrocephalus, Somatic sensory dysfunction, Hyperesthesia, Myelopathy ORPHA:637
Osteopetrosis, Autosomal Recessive 7
Growth delay, Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Niemann-Pick Disease Type C
Hydrops fetalis, Chorea, Fetal ascites, Ataxia, Progressive gait ataxia, Narcolepsy ORPHA:646
Proteus-Like Syndrome
Hydrocephalus, Communicating hydrocephalus ORPHA:2969
Crouzon Syndrome
Hydrocephalus OMIM:123500
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
6Q Terminal Deletion Syndrome
Hypospadias, Phimosis, Gait ataxia, Colpocephaly, Dysmetria ORPHA:75857
Congenital Disorder Of Glycosylation, Type Iim
Vesicovaginal fistula, Microcephaly, Ureteropelvic junction obstruction, Lateral ventricle dilata... OMIM:300896
Neurocardiofaciodigital Syndrome
Vesicoureteral reflux, Short stature, Dilated fourth ventricle, Microcephaly, Lateral ventricle d... OMIM:619869
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Short stature, Renal hypoplasia, Lateral ventricle dilatation, Renal i... OMIM:181270
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis ORPHA:93259
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Renal hypoplasia/aplasia, Hydrocephalus, Abnormal renal morphology, Short stature, Hydronephrosis... ORPHA:363700
Autosomal Recessive Spastic Paraplegia Type 11
Ataxia, Lateral ventricle dilatation, Hypothalamic atrophy ORPHA:2822
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus, Neurogenic bladder, Nonimmune hydrops fetalis ORPHA:137667
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Colpocephaly ORPHA:261250
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Lhermitte-Duclos Disease
Hydrocephalus, Ataxia ORPHA:65285
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Long penis, Hydrocephalus, Dandy-Walker malformation, Truncal ataxia, Short stature,... OMIM:264090
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation, Nephrolithiasis ORPHA:722
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus, Rhizomelia OMIM:618162
Narcolepsy 1
Narcolepsy OMIM:161400
Narcolepsy 3
Narcolepsy OMIM:609039
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Costello Syndrome
Polyhydramnios, Hydrocephalus, Short stature, Premature birth, Ventriculomegaly, Renal insufficiency OMIM:218040
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polycystic kidney dysplasia, Hydrops fetalis, Micropenis, Lateral ventricle dilatation OMIM:263520
Narcolepsy 7
Narcolepsy OMIM:614250
Tetraamelia Syndrome 1
Renal agenesis, Single umbilical artery, Hydrocephalus, Urethral atresia OMIM:273395
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Lateral ventricle dilatation OMIM:619278
Amoebiasis Due To Free-Living Amoebae
CSF lymphocytic pleiocytosis, Increased CSF protein concentration, Intrarenal abscess, Abnormal h... ORPHA:68
Mend Syndrome
Short stature, Dandy-Walker malformation, Hydrocephalus, Thickened nuchal skin fold ORPHA:401973
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Gait ataxia, Ventriculomegaly, Micropenis, Communicating hydrocephalus ORPHA:457359
Chromosome 1P36 Deletion Syndrome, Distal
Ectopic kidney, Hypospadias, Hydrocephalus, Growth delay, Microcephaly, Agenesis of corpus callos... OMIM:607872
Acrofacial Dysostosis, Cincinnati Type
Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Short stature, Microcephaly, Hydro... OMIM:616462
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Polyhydramnios, Hypospadias, Hydrocephalus, Renal cyst, Hydronephrosis, Agenesis... OMIM:312870
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Oligohydramnios ORPHA:3016
Baller-Gerold Syndrome
Abnormality of the kidney, Spina bifida occulta, Hydrocephalus, Severe intrauterine growth retard... OMIM:218600
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Fetal distress, Unilateral renal agenesis, Proportionate short statur... ORPHA:500150
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Delayed puberty, Limb ataxia, Hydrocephalus, Growth delay, Ventriculomegaly ORPHA:2072
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Neurofibromatosis Type 1
Delayed puberty, Hydrocephalus, Abnormality of the upper urinary tract, Short stature, Ataxia, Pa... ORPHA:636
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Chordee, Colpocephaly, Hypospadias ORPHA:477993
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Coffin-Siris Syndrome 12
Hypospadias, Short stature, Microcephaly, Noncommunicating hydrocephalus, Horseshoe kidney OMIM:619325
Mucopolysaccharidosis Type 2
Short stature, Communicating hydrocephalus, Growth delay, Umbilical hernia ORPHA:580
Craniofacial Microsomia 1
Occipital encephalocele, Ectopic kidney, Hydrocephalus, Branchial anomaly, Vesicoureteral reflux,... OMIM:164210
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Alobar holoprosencephaly, Microcephaly, Colpocephaly, Agenesis of co... OMIM:301043
Gorlin Syndrome
Hydrocephalus ORPHA:377
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Gait ataxia, Ventriculomegaly, Communicating hydrocephalus OMIM:617011
Genitopatellar Syndrome
Polyhydramnios, Multicystic kidney dysplasia, Microcephaly, Hydronephrosis, Colpocephaly, Agenesi... OMIM:606170
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Cryptococcosis
Hydrocephalus ORPHA:1546
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Autosomal Recessive Malignant Osteopetrosis
Growth delay, Hydrocephalus ORPHA:667
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Secondary microcephaly, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Impaired... ORPHA:261537
Loeys-Dietz Syndrome 2
Hydrocephalus, Umbilical hernia OMIM:610168
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Short stature, Hydrocephalus ORPHA:3042
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Secondary microcephaly, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Impaired... ORPHA:261552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly, Microcephaly OMIM:253280
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Norrie Disease
Delayed puberty, Abnormality of the diencephalon, Microcephaly 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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