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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Low APGAR score, Hypoplasia o... ORPHA:79243
Senior-Loken Syndrome
Nephronophthisis, Ataxia, Chronic kidney disease, Short stature, Stage 5 chronic kidney disease ORPHA:3156
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Postnatal growth retardation, Severe intrauterine growth retardation, Short stature, Intrauterine... ORPHA:73272
Placental Insufficiency
Maternal hypertension, Proportionate short stature, Preeclampsia, Eclampsia, Intrauterine growth ... ORPHA:439167
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Ventriculomegaly, Reduced renal corticomedull... OMIM:611555
Silver-Russell Syndrome Due To A Point Mutation
Microphallus, Oligohydramnios, Postnatal growth retardation, Intrauterine growth retardation, Hyp... ORPHA:397590
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Ataxia, Abnormal corpus callosum morphology, Cortical dysplasia, Microcephaly, ... OMIM:618709
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Ataxia, Nephropathy, Renal dysplasia, Renal cyst, Short stature, Stage 5 chroni... OMIM:266920
Joubert Syndrome 4
Nephronophthisis, Renal insufficiency, Ataxia, Abnormal renal medulla morphology OMIM:609583
Rhyns Syndrome
Nephronophthisis, Hypopituitarism, Multicystic kidney dysplasia ORPHA:140976
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Megalencephaly, Polymicrogyria, Hydrocephalus OMIM:615938
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hydrocep... OMIM:615937
Atypical Teratoid Rhabdoid Tumor
Ataxia, Cerebral calcification, Hydrocephalus ORPHA:99966
Coach Syndrome 3
Renal interstitial fibrosis, Nephronophthisis, Renal interstitial inflammation, Ataxia, Renal tub... OMIM:619113
Nephronophthisis 18
Nephronophthisis, Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:615862
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
Alexander Disease
Increased CSF protein, Hydrocephalus, Ataxia OMIM:203450
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Coenzyme Q10 Deficiency, Primary, 8
Oligohydramnios, Postnatal growth retardation, Abnormal renal corticomedullary differentiation, R... OMIM:616733
Cach Syndrome
T2 hypointense thalamus, Truncal ataxia, Oligohydramnios, Renal hypoplasia, Limb ataxia, Growth d... ORPHA:135
Pineocytoma
Increased CSF protein, Episodic ataxia, Hydrocephalus ORPHA:251912
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Lissencephaly, X-Linked, 1
Pachygyria, Postnatal growth retardation, Ataxia, Agyria, Micropenis, Agenesis of corpus callosum... OMIM:300067
Jeune Syndrome
Nephronophthisis, Renal insufficiency, Nephropathy, Short stature ORPHA:474
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus callosum, Polymicrogyria, ... OMIM:604213
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Ventriculomegaly, Chronic kidney disease, Short stature, Hydrocephalus OMIM:615630
Joubert Syndrome 7
Abnormal corpus callosum morphology, Nephronophthisis, Renal cyst, Ataxia OMIM:611560
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Growth delay, Cerebral atrophy, Severe short stature, Intr... OMIM:619057
Joubert Syndrome 3
Nephronophthisis, Enlarged fossa interpeduncularis, Ataxia, Stage 5 chronic kidney disease OMIM:608629
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Rhyns Syndrome
Nephronophthisis, Pituitary hypothyroidism, Chronic kidney disease, Short stature, Renal insuffic... OMIM:602152
Joubert Syndrome 15
Nephronophthisis, Micropenis, Ataxia OMIM:614464
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Developmental And Epileptic Encephalopathy 36
Microcephaly, Cerebral atrophy, Hydrocephalus OMIM:300884
Joubert Syndrome 16
Nephronophthisis, Renal cyst, Dandy-Walker malformation OMIM:614465
Nephronophthisis 15
Nephronophthisis OMIM:614845
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Dysplastic corpus callosum, Short stature, Nephrocalcinosis, ... ORPHA:557003
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly, Renal cyst OMIM:614870
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of thalamus morphology, Type II lissencephaly, Normal pressure hydrocephalus, Spastic... ORPHA:300570
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus... OMIM:600348
Joubert Syndrome 2
Abnormal renal physiology, Nephronophthisis, Enlarged fossa interpeduncularis, Ataxia, Abnormal c... OMIM:608091
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Short stature, Microcephaly, Agenesis of corpus callosum OMIM:303350
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait ataxia, Hypoplasia of the corpus callosum, Growth delay, Intrauterine growth retardation, Ab... ORPHA:488635
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Diffuse white matter abnormalities, Basal ganglia gliosis, Ab... ORPHA:70474
Gómez-López-Hernández Syndrome
Ataxia, Hydrocephalus, Short stature, Impaired pain sensation ORPHA:1532
Bresek Syndrome
Hypoplasia of the bladder, Renal hypoplasia, Growth delay, Renal dysplasia, Neonatal death, Vesic... ORPHA:85284
Nephronophthisis 16
Nephronophthisis, Renal insufficiency, Polycystic kidney dysplasia, Enlarged kidney OMIM:615382
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Decreased fetal movement, Cerebral ... ORPHA:2570
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Enlarged fetal cisterna magna, Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebral ... ORPHA:2703
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Fetal Akinesia Deformation Sequence 1
Polyhydramnios, Cavum septum pellucidum, Short umbilical cord, Stillbirth, Absent septum pellucid... OMIM:208150
Fanconi Anemia, Complementation Group R
Microcephaly, Growth delay, Hydrocephalus OMIM:617244
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Nephronophthisis 2
Nephronophthisis, Oligohydramnios, Enlarged kidney, Absence of renal corticomedullary differentia... OMIM:602088
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Abnormality of the septum pellucidum, Renal agenesis, Renal hypoplasia, Cerebral atrophy, Umbilic... ORPHA:171839
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Neu-Laxova Syndrome 1
Polyhydramnios, Spina bifida, Agenesis of corpus callosum, Short umbilical cord, Stillbirth, Chor... OMIM:256520
Oligomeganephronia
Branchial cyst, Decreased numbers of nephrons, Unilateral renal agenesis, Abnormality of medullar... ORPHA:2260
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Growth delay, Cerebral atrophy, Absence of renal corticomedullary differentiation, Sh... OMIM:259720
Pettigrew Syndrome
Gait ataxia, Ventriculomegaly, Abnormality of the basal ganglia, Cerebral calcification, Choreoat... OMIM:304340
Coach Syndrome 1
Nephronophthisis, Growth delay, Unilateral renal agenesis, Ataxia, Renal cyst, Stage 5 chronic ki... OMIM:216360
Craniofacial Dyssynostosis
Short stature, Hypoplasia of the corpus callosum, Hydrocephalus, Umbilical hernia ORPHA:1516
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate... ORPHA:397725
Dandy-Walker Syndrome
Dilated fourth ventricle, Posterior fossa cyst at the fourth ventricle, Truncal ataxia, Hydroceph... OMIM:220200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Type II lissencephaly, Ventriculomegaly, Anencephaly, Renal dysplasi... OMIM:615287
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Growth delay, Polyuria, Renal tubul... OMIM:256100
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Limb ataxia, Basal ganglia calcification, Thalamic calcification OMIM:618824
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:614817
Arima Syndrome
Nephronophthisis, Tubulointerstitial fibrosis, Ataxia, Occipital meningocele, Renal tubular atrop... OMIM:243910
Odontochondrodysplasia 1
Mesomelic short stature, Nephronophthisis, Polycystic kidney dysplasia, Short stature OMIM:184260
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, Cerebral calcification, Intraut... OMIM:610333
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Abnormality of the basal ganglia, Decreased thalamic volume, Hypoplasia of the olfactory bulb OMIM:618646
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Basal gang... OMIM:618193
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Decreased thalamic volume, Simplifi... OMIM:619072
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Cerebral calcification, Microcephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Meningocele, Renal cyst, Intrauterine growth reta... OMIM:611134
Neural Tube Defects, Susceptibility To
Anencephaly, Urinary incontinence, Spina bifida occulta, Myelomeningocele, Hydrocephalus OMIM:182940
Achondroplasia
Rhizomelia, Megalencephaly, Hydrocephalus, Neonatal short-limb short stature OMIM:100800
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Growth delay, Polyuria, Renal tubular atrophy, Ren... OMIM:606966
Biemond Syndrome Type 2
Hypospadias, Delayed puberty, Hydrocephalus, Short stature ORPHA:141333
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Ureteral atresia, Hydronephrosis, Spina bifida occulta, Myelomeningocele, Hydrocephalus OMIM:183802
Leigh Syndrome
Diffuse spongiform leukoencephalopathy, Increased CSF lactate, Neuronal loss in basal ganglia, Ab... ORPHA:506
Craniofacial Dyssynostosis With Short Stature
Horseshoe kidney, Hydrocephalus, Hypoplasia of the corpus callosum, Ventriculomegaly, Short statu... OMIM:218350
1Q21.1 Microduplication Syndrome
Hypospadias, Hydrocephalus ORPHA:250994
Congenital Toxoplasmosis
Ventriculomegaly, Premature birth, Cerebral calcification, Intrauterine growth retardation, Micro... ORPHA:858
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Polyhydramnios, Hydrocephalus, Ventriculomegaly, Hydranencephaly, Premature birth, Intrauterine g... OMIM:225790
Joubert Syndrome 6
Nephronophthisis, Enlarged fossa interpeduncularis, Ataxia, Stage 5 chronic kidney disease OMIM:610688
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Diabetic Embryopathy
Aplasia/Hypoplasia of the corpus callosum, Spinal dysraphism, Renal hypoplasia/aplasia, Single um... ORPHA:1926
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Large placenta, Postnatal growth retardation, Umbilical hernia, Hydronephrosis, I... ORPHA:254528
Ritscher-Schinzel Syndrome 1
Single umbilical artery, Hydronephrosis, Intrauterine growth retardation, Hypospadias, Hydrocepha... OMIM:220210
Frontal Encephalocele
Hydrocephalus, Spina bifida, Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification ORPHA:1931
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Central Neurocytoma
Paresthesia, Hydrocephalus, Pain insensitivity, Ataxia, Cerebral calcification, Abnormal lateral ... ORPHA:73256
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Ventriculomegaly, Umbilical hernia, Hypospadias, Agenesis of corpus callosum OMIM:175700
Senior-Loken Syndrome 9
Nephronophthisis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease OMIM:616629
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormality of thalamus morphology, Paresthesia, Delayed puberty, Short stature, Hypospadias, Mic... ORPHA:2959
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Abse... OMIM:617542
Central Precocious Puberty
Hypothalamic hamartoma, Prenatal maternal abnormality, Increased circulating gonadotropin level, ... ORPHA:759
Meckel Syndrome, Type 1
Agenesis of corpus callosum, Hypoplasia of the bladder, Oligohydramnios, Renal agenesis, Large pl... OMIM:249000
Nephronophthisis 11
Nephronophthisis, Growth delay, Polyuria, Renal tubular atrophy, Renal corticomedullary cysts, Tu... OMIM:613550
Hydrocephalus, Congenital, 3, With Brain Anomalies
Polyhydramnios, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker... OMIM:617967
Congenital Hydrocephalus
Colpocephaly, Ventriculomegaly, Small cerebral cortex, Abnormal cortical gyration, Hydrocephalus,... ORPHA:2185
Methylmalonic Acidemia With Homocystinuria
Microcephaly, Hydrocephalus ORPHA:26
Fanconi Anemia, Complementation Group I
Abnormal renal morphology, Colpocephaly, Horseshoe kidney, Absent septum pellucidum, Renal hypopl... OMIM:609053
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Short Rib-Polydactyly Syndrome
Polyhydramnios, Nephronophthisis, Urogenital sinus anomaly, Increased nuchal translucency, Abnorm... ORPHA:1505
Fried Syndrome
Cerebral calcification, Hydrocephalus ORPHA:85335
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy, Abnormal cerebral white matter morphology, Cerebral atrophy, Ataxia, Urinary incontin... ORPHA:314404
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Anterior hypopituitarism, Renal dysplasia, Micropenis, Hydrocephalus OMIM:241800
Joubert Syndrome 14
Growth delay, Ataxia, Renal cyst, Hydrocephalus, Dandy-Walker malformation OMIM:614424
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Ventriculomegaly, Ectopic kidney, Renal agenesis, Ureteral duplication, Hydroce... OMIM:602200
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Mild proteinuria, Stage 5 chronic kidney disease OMIM:614377
Temple Syndrome
Intrauterine growth retardation, Premature birth, Hydrocephalus, Short stature OMIM:616222
Lissencephaly 5
Porencephalic cyst, Type II lissencephaly, Hypoplasia of the corpus callosum, Abnormal cerebral w... OMIM:615191
1Q44 Microdeletion Syndrome
Horseshoe kidney, Hydrocephalus, Ventriculomegaly, Growth delay, Vesicoureteral reflux, Short sta... ORPHA:238769
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Postnatal growth retardation, Large placenta, Umbilical hernia ORPHA:254534
Congenital Disorder Of Glycosylation, Type Iil
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Growth delay, Unilateral r... OMIM:614576
Emanuel Syndrome
Agenesis of corpus callosum, Oligohydramnios, Renal hypoplasia, Ventriculomegaly, Cerebral atroph... ORPHA:96170
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired vibratory sensation, Paresthesia, Impaired temperature sensation, Somatic sensory dysfun... ORPHA:99947
Axial Mesodermal Dysplasia Spectrum
Oligohydramnios, Abnormality of the urinary system, Abnormality of the ureter, Abnormal localizat... ORPHA:1834
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Leukoencephalopathy OMIM:613724
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Ventriculomegaly, Renal corticomedullary cysts, Premature birth, Renal insufficie... OMIM:219730
Rhombencephalosynapsis
Abnormal renal morphology, Ventriculomegaly, Fusion of the left and right thalami, Ataxia, Septo-... ORPHA:59315
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Cerebral atrophy, Premature birth, Nephrotic syndrome, Hydrocephalus OMIM:269920
Triploidy
Polyhydramnios, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Meningocele, Hypopl... ORPHA:3376
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum, Hydrocephalus, Umbilical hernia ORPHA:380
Diencephalic Syndrome
Hydrocephalus, Long penis ORPHA:1672
Biemond Syndrome Ii
Hydrocephalus, Short stature OMIM:210350
Neuroferritinopathy
T2 hypointense thalamus, Abnormal caudate nucleus morphology, Chorea, Abnormal thalamic MRI signa... ORPHA:157846
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Abnormal cerebral white matter morphology, Postnatal growth retardation, Glomer... ORPHA:2169
Aapoaiv Amyloidosis
Renal amyloidosis, Glomerular sclerosis, Chronic kidney disease, Abnormal renal medulla morpholog... ORPHA:439232
Williams-Beuren Region Duplication Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Unilateral renal agenesis, Hydronephrosis, S... OMIM:609757
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Mental Retardation, Buenos Aires Type
Abnormality of the urinary system, Hypospadias, Microcephaly, Hydrocephalus, Partial agenesis of ... OMIM:249630
6P22 Microdeletion Syndrome
Hydronephrosis, Hydrocephalus ORPHA:251046
Temple Syndrome
Postnatal growth retardation, Premature birth, Short stature, Hydrocephalus, Decreased response t... ORPHA:254516
Restrictive Dermopathy
Polyhydramnios, Short umbilical cord, Large placenta, Ureteral duplication, Decreased fetal movem... ORPHA:1662
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Agenesis of corpus callosum, Type II lissencephaly, Ventricul... ORPHA:370959
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Ventriculomegaly, Megalencephaly, Polymicrogyria, Nephroblastoma, Hydroc... OMIM:602501
Thanatophoric Dysplasia
Polyhydramnios, Abnormality of the kidney, Ventriculomegaly, Increased nuchal translucency, Intra... ORPHA:2655
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Oligohydramnios, Enlarged kidney, Neonatal death, Absence of renal c... OMIM:263200
Slc35A2-Cdg
Thickened nuchal skin fold, Prenatal maternal abnormality, Abnormal renal morphology, Cerebral wh... ORPHA:356961
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Ventriculomegaly, Type II lissencephaly, Hydrocephalus OMIM:613154
Pontocerebellar Hypoplasia, Type 15
Simplified gyral pattern, Agenesis of corpus callosum, Hydrocephalus, Partial agenesis of the cor... OMIM:619302
Hereditary Cryohydrocytosis With Reduced Stomatin
Cerebral white matter hypoplasia, Intracerebral periventricular calcifications, Postnatal growth ... ORPHA:168577
Congenital Muscular Dystrophy, Fukuyama Type
Aplasia/Hypoplasia of the corpus callosum, Type II lissencephaly, Ventriculomegaly, Intrauterine ... ORPHA:272
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Spinal dysraphism, Anencephaly, Men... ORPHA:1908
Arnold-Chiari Malformation Type Ii
Neurogenic bladder, Agenesis of corpus callosum, Ventriculomegaly, Aqueductal stenosis, Ataxia, M... ORPHA:1136
Mosaic Trisomy 16
Maternal diabetes, Horseshoe kidney, Preeclampsia, Large placenta, Single umbilical artery, Prema... ORPHA:1708
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Type II lissencephaly, Hydrocephalus OMIM:614830
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Pachygyria, Exencephaly, Abnormal penis morphology, Polymicrogyria, Macrogyria, Abnormal cortical... ORPHA:2211
Cutis Laxa, Autosomal Recessive, Type Iib
Intrauterine growth retardation, Microcephaly, Agenesis of corpus callosum, Hydrocephalus OMIM:612940
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Decrease... OMIM:174000
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Ventriculomegaly, Hydrocephalus OMIM:617866
Microgastria-Limb Reduction Defects Association
Porencephalic cyst, Horseshoe kidney, Cystic renal dysplasia, Arrhinencephaly, Fusion of the left... OMIM:156810
Mosaic Variegated Aneuploidy Syndrome 1
Hypodysplasia of the corpus callosum, Agenesis of corpus callosum, Oligohydramnios, Ventriculomeg... OMIM:257300
New-Onset Refractory Status Epilepticus
Focal T2 hyperintense basal ganglia lesion, Abnormal thalamic MRI signal intensity, Increased CSF... ORPHA:363558
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Intrauterine growth retardation, Microcephaly, Hydroce... ORPHA:2075
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum,... ORPHA:1528
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Enuresis, Renal corticomedullary cysts, Stage 5 chronic kidney disease OMIM:606995
Trichohepatoenteric Syndrome 1
Polyhydramnios, Large placenta, Abnormalities of placenta or umbilical cord, Galactosuria, Short ... OMIM:222470
Medullary cystic kidney disease 2
Multiple renal cysts, Enuresis, Renal tubular atrophy, Renal corticomedullary cysts, Tubulointers... OMIM:603860
Hydranencephaly
Dysgenesis of the thalamus, Abnormal corpus striatum morphology, Hypoplastic hippocampus, Ventric... ORPHA:2177
Peroxisome Biogenesis Disorder 12A (Zellweger)
Growth delay, Cerebral atrophy, Decreased fetal movement, Short stature, Microcephaly, Renal tubu... OMIM:614886
Trisomy 17P
Urethral valve, Growth delay, Urethral stenosis, Hydronephrosis, Polycystic kidney dysplasia, Sho... ORPHA:261290
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased CSF lactate, Focal T2 hyperintense thalamic lesion, Ataxia OMIM:619046
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Type II lissencephaly, Ventriculomegaly, Abnormal cerebral white matter morphology, A... OMIM:613153
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Kleeblattschaedel
Hydrocephalus OMIM:148800
Acute Disseminated Encephalomyelitis
Diffuse white matter abnormalities, Hypointensity of cerebral white matter on MRI, Abnormal periv... ORPHA:83597
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Polymicrogyria, Megalencephaly, Hydrocephalus, Abnormal localization of kidney ORPHA:83473
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Hypoplasia of the corpus callosum, Abnormal cerebral white ... ORPHA:178469
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Horseshoe kidney, Renal agenesis, Oligohydramnios, Decreased numbers of nephrons, Bifid ureter, R... OMIM:617641
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Cerebral white matter atrophy, Ataxia ORPHA:435638
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal cerebral white matter morphology, Type II lissencephaly, Hydrocephalus ORPHA:352682
Japanese Encephalitis
Abnormality of thalamus morphology, Focal T2 hyperintense thalamic lesion, Abnormality of the int... ORPHA:79139
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Thickened nuchal skin fold, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, ... ORPHA:284417
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Renal insufficiency, Renal cortical cysts, Hyperechogenic kidneys, Absent septum ... ORPHA:397715
Thanatophoric Dysplasia Type 2
Polyhydramnios, Abnormality of the kidney, Holoprosencephaly, Ventriculomegaly, Increased nuchal ... ORPHA:93274
Czeizel-Losonci Syndrome
Thickened nuchal skin fold, Spina bifida, Congenital megaureter, Abnormality of the urinary syste... ORPHA:2437
Nasu-Hakola Disease
Chorea, Ventriculomegaly, Cerebral cortical atrophy, Cerebral calcification, Hydrocephalus ORPHA:2770
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Agenesis of corpus callosum, Hydrocephalus OMIM:300864
Panhypophysitis
Panhypopituitarism, Hyposthenuria, Pituitary hypothyroidism, Abnormality of the posterior pituita... ORPHA:95513
Multiple Sulfatase Deficiency
Abnormal periventricular white matter morphology, Mucopolysacchariduria, Ventriculomegaly, Cerebr... OMIM:272200
Trisomy 1Q
Polyhydramnios, Hydrops fetalis, Hydrocephalus, Congenital megaureter, Ventriculomegaly, Multicys... ORPHA:261344
Nephronophthisis 19
Nephronophthisis, Stage 5 chronic kidney disease OMIM:616217
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Dilated fourth ventricle, Polymicrogyria, Hypospadias, Microce... OMIM:617751
Cog5-Cdg
Neurogenic bladder, Truncal ataxia, Cerebral white matter atrophy, Oligohydramnios, Urinary incon... ORPHA:263487
Dandy-Walker Malformation With Postaxial Polydactyly
Truncal ataxia, Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Hydroceph... OMIM:220220
Fanconi Anemia, Complementation Group B
Hypoplasia of the corpus callosum, Ventriculomegaly, Growth delay, Single umbilical artery, Intra... OMIM:300514
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Umbilical hernia, Dandy-Walker malformation, Intrauterine growth retardation, Microcephaly, Hydro... OMIM:612938
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Type II lissencephaly, Hydrocephalus ORPHA:324416
Glutaryl-Coa Dehydrogenase Deficiency
Open operculum, Abnormal caudate nucleus morphology, Pallidal degeneration, Glutaric aciduria, Ch... ORPHA:25
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum OMIM:304100
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Ataxia, Myelomeningocele, Agenesis of corpus callosum OMIM:207950
Distal Monosomy 10Q
Cavum septum pellucidum, Horseshoe kidney, Acute kidney injury, Enuresis, Postnatal growth retard... ORPHA:96148
3C Syndrome
Ventriculomegaly, Postnatal growth retardation, Single umbilical artery, Hydronephrosis, Short st... ORPHA:7
Familial Acute Necrotizing Encephalopathy
Abnormality of thalamus morphology, Abnormal putamen morphology, Cerebral edema, Increased CSF pr... ORPHA:88619
Senior-Loken Syndrome 8
Nephronophthisis OMIM:616307
Severe X-Linked Intellectual Disability, Gustavson Type
Dandy-Walker malformation, Dilated fourth ventricle, Vesicoureteral reflux, Microcephaly, Severe ... ORPHA:3078
Pelvis-Shoulder Dysplasia
Spina bifida, Mesomelic/rhizomelic limb shortening, Hydranencephaly, Hydronephrosis, Short statur... ORPHA:2839
Papillary Tumor Of The Pineal Region
Increased CSF protein, Episodic ataxia, Hydrocephalus ORPHA:251915
Vacterl Association With Hydrocephalus
Renal hypoplasia, Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
Holoprosencephaly-Caudal Dysgenesis Syndrome
Renal insufficiency, Holoprosencephaly, Abnormality of the diencephalon, Premature birth, Microce... ORPHA:2165
Combined Oxidative Phosphorylation Defect Type 7
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Ataxia, Abnormal th... ORPHA:254930
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Cerebral atrophy, Focal T2 hyperintense thalamic lesi... ORPHA:79264
Adenohypophysitis
Panhypopituitarism, Hyposthenuria, Pituitary hypothyroidism, Abnormal thalamic MRI signal intensi... ORPHA:95512
Marden-Walker Syndrome
Abnormality of the kidney, Renal agenesis, Hydrocephalus, Absent septum pellucidum, Hydroureter, ... ORPHA:2461
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Pachygyria, Agenesis of corpus callosum, Cystic renal dysplasia, Renal tubular e... ORPHA:157
Thanatophoric Dysplasia, Type I
Polyhydramnios, Lethal short-limbed short stature, Severe short stature, Decreased fetal movement... OMIM:187600
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Abnormality of the kidney, Hydrocephalus, Enuresis, Tubulointerstitial nephritis, Short stature, ... ORPHA:459061
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Cerebral atrophy, Secondary microcephaly, Hydrocephalus ORPHA:397951
Mucopolysaccharidosis, Type Vii
Hydrops fetalis, Dermatan sulfate excretion in urine, Postnatal growth retardation, Umbilical her... OMIM:253220
Autosomal Recessive Spastic Paraplegia Type 66
Hypoplasia of the corpus callosum, Impaired vibration sensation in the lower limbs, Colpocephaly ORPHA:401815
16P13.2 Microdeletion Syndrome
Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly, Micropenis, D... ORPHA:500055
Oxoglutaric Aciduria
Ataxia, Hydrocephalus, Short stature, Abnormal urine alpha-ketoglutarate concentration ORPHA:31
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Pachygyria, Agenesis of corpus callosum, Cystic renal dysplasia, Renal tubular e... ORPHA:228308
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dilation of lateral ventricles, Spina bifida occulta, Microcephaly, Agenesis of corpus callosum, ... OMIM:618736
Spondyloenchondrodysplasia
Hematuria, Abnormal periventricular white matter morphology, Proteinuria, Chorea, Ventriculomegal... ORPHA:1855
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polyhydramnios, Fetal polyuria, Hydrops fetalis, Tubulointerstitial fibrosis, Hypernatriuria, Pol... OMIM:602522
Cranioectodermal Dysplasia 3
Nephronophthisis, Short stature, Stage 5 chronic kidney disease OMIM:614099
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Gait ataxia, Cerebral atrophy, Ataxia, Hyperintensity of cerebral white ... ORPHA:1947
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Positive Romberg sign, Gait ataxia, Impaired vibratory sensation, Abnormal thalamic MRI signal in... ORPHA:70595
Hemangioblastoma
Neurogenic bladder, Hydrocephalus, Dysesthesia ORPHA:252054
Vitamin K Antagonist Embryofetopathy
Intrauterine growth retardation, Myelomeningocele, Hydrocephalus ORPHA:1914
Fanconi Anemia, Complementation Group L
Intrauterine growth retardation, Renal hypoplasia, Micropenis, Hydrocephalus OMIM:614083
Hydrolethalus Syndrome 2
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Anencephaly OMIM:614120
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Hypoplasia of the corpus callosum, Umbilical hernia, Dilation of lateral ventri... OMIM:618914
Distal Tetrasomy 15Q
Abnormality of the kidney, Horseshoe kidney, Hydronephrosis, Polycystic kidney dysplasia, Nephrob... ORPHA:314588
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Dilation of lateral ventricles, Thick cerebral cortex ORPHA:101071
Hydrocephalus With Associated Malformations
Intrauterine growth retardation, Hydrocephalus OMIM:236640
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:618577
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, G... ORPHA:208447
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Multifocal hyperintensity of cerebral white ... ORPHA:488627
Lowry-Maclean Syndrome
Aplasia/Hypoplasia of the corpus callosum, Growth delay, Hypospadias, Intrauterine growth retarda... ORPHA:2409
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal renal tubule morphology, Ataxia, Abnormality of the diencephalon, Short stature, Hydroce... ORPHA:2720
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Abnormal cerebral cortex morphology ORPHA:163961
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Short stature ORPHA:2183
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Renal tubular atrophy, Renal corticomedullary cysts, Tubular basement membrane ... OMIM:613159
Walker-Warburg Syndrome
Pachygyria, Agenesis of corpus callosum, Absent septum pellucidum, Ventriculomegaly, Dandy-Walker... ORPHA:899
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly, Growth delay, Hypoplasia of penis, Hypospadias, Agenesis of cor... ORPHA:77298
Desmosterolosis
Pachygyria, Agenesis of corpus callosum, Renal agenesis, Absent septum pellucidum, Ventriculomega... ORPHA:35107
Joubert Syndrome With Renal Defect
Hydrocephalus, Ataxia, Nephropathy, Polymicrogyria, Renal insufficiency, Agenesis of corpus callosum ORPHA:220497
Acrodysostosis 1 With Or Without Hormone Resistance
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Elevated circul... OMIM:101800
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Gonadotropin deficiency, Narcolepsy, Enuresis, Adrenocorticotropic hormone deficiency, Delayed pu... ORPHA:293987
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Short stature OMIM:109120
Restrictive Dermopathy, Lethal
Polyhydramnios, Short umbilical cord, Premature rupture of membranes, Stillbirth, Decreased fetal... OMIM:275210
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Abnormal cerebral white matter morphology, Hydrocephalus OMIM:600991
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Abnormal periventricular white matter morphology, Hydrocephalus, Ventriculomegaly, Abnormal cereb... OMIM:618476
Cardiofaciocutaneous Syndrome 4
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology, Short stature OMIM:615280
Mucopolysaccharidosis, Type Ii
Mild short stature, Dermatan sulfate excretion in urine, Severe short stature, Umbilical hernia, ... OMIM:309900
Encephalocraniocutaneous Lipomatosis
Porencephalic cyst, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cortical dysp... OMIM:613001
Cornelia De Lange Syndrome 1
Abnormal renal morphology, Renal hypoplasia, Hypospadias, Vesicoureteral reflux, Reduced renal co... OMIM:122470
Arachnoiditis
Urinary bladder sphincter dysfunction, Hydrocephalus, Paresthesia ORPHA:137817
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Orofaciodigital Syndrome I
Hypothalamic hamartoma, Porencephalic cyst, Agenesis of corpus callosum, Abnormal cortical gyrati... OMIM:311200
Metatropic Dysplasia
Hydrocephalus, Severe short stature ORPHA:2635
Coach Syndrome 2
Agenesis of corpus callosum, Hydrocephalus, Hyperechogenic kidneys OMIM:619111
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, Umbilical hernia ORPHA:2181
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly ORPHA:250972
Joubert Syndrome With Oculorenal Defect
Aplasia/Hypoplasia of the corpus callosum, Nephropathy, Ataxia, Renal insufficiency, Hydrocephalus ORPHA:2318
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
15Q Overgrowth Syndrome
Abnormal renal morphology, Ureterovesical stenosis, Horseshoe kidney, Hydrocephalus, Hydronephros... ORPHA:314585
Krabbe Disease
Increased CSF protein, Diffuse cerebral atrophy, Hydrocephalus OMIM:245200
Aceruloplasminemia
Gait ataxia, Limb ataxia, Chorea, Ataxia, Abnormal thalamic MRI signal intensity, Abnormal corpus... ORPHA:48818
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Growth delay, Cerebral atrophy, Aminoaciduria, Ataxia, Nephrocalcinosis, Communicating hydrocephalus OMIM:616084
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology ORPHA:404440
Fg Syndrome Type 1
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Small pituitary gland, Umbilical her... ORPHA:93932
D-2-Hydroxyglutaric Aciduria 1
Glutaric aciduria, Subependymal cysts, D-2-hydroxyglutaric aciduria, Multifocal cerebral white ma... OMIM:600721
Combined Oxidative Phosphorylation Defect Type 39
Corpus callosum atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morpho... ORPHA:565624
Endocrine-Cerebroosteodysplasia
Microphallus, Aplasia/Hypoplasia of the corpus callosum, Enlarged kidney, Holoprosencephaly, Vent... OMIM:612651
Joubert Syndrome 5
Nephronophthisis, Impaired renal concentrating ability, Renal cortical cysts, Ataxia, Stage 5 chr... OMIM:610188
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Hydrocephalus, Enlarged kidney OMIM:314390
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus, Short stature ORPHA:2701
Hypotonia, Infantile, With Psychomotor Retardation
Decreased fetal movement, Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:616816
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Renal insufficiency, Hydrops fetalis, Growth delay, Cerebral atrophy, Ataxia, Glomerulopathy, Hem... ORPHA:79282
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis, Short stature, Intrauterine growth retar... OMIM:618460
Mental Retardation, Autosomal Dominant 36
Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, Hydrocephalus OMIM:616362
Mend Syndrome
Short stature, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Kagami-Ogata Syndrome
Polyhydramnios, Large placenta, Premature birth, Postnatal growth retardation ORPHA:254519
Neuromuscular Oculoauditory Syndrome
Multiple renal cysts, Reduced renal corticomedullary differentiation, Agenesis of corpus callosum OMIM:618733
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Colpocephaly, Ventriculomegaly, Umbilical hernia, Intrauterine growt... OMIM:618651
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Secondary microcephaly, Abnormal thalamic MRI signal intensity, Abnormal basal ganglia MRI signal... ORPHA:485421
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Rhizomelia, Hydrocephalus, Short stature OMIM:300863
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Optic Pathway Glioma
Growth delay, Hydrocephalus ORPHA:2086
Meningioma
Focal T2 hypointense thalamic lesion, Enlarged pituitary gland, Hypothalamic hypothyroidism, Abno... ORPHA:2495
Wars2-Related Combined Oxidative Phosphorylation Defect
Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral atrophy, Cerebral wh... ORPHA:572798
Functioning Gonadotropic Adenoma
Panhypopituitarism, Increased circulating gonadotropin level, Hydrocephalus, Anterior hypopituita... ORPHA:91348
Vacterl With Hydrocephalus
Polyhydramnios, Spina bifida, Renal agenesis, Arrhinencephaly, Aqueductal stenosis, Single umbili... ORPHA:3412
African Trypanosomiasis
Narcolepsy, Paresthesia, Ventriculomegaly, Abnormal cerebral white matter morphology, Urinary inc... ORPHA:3385
Craniopharyngioma
Abnormal hypothalamus morphology, Proportionate short stature, Enlarged pituitary gland, Growth d... ORPHA:54595
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Breech presentation, Microcephaly, Dilation of lateral ventricles OMIM:618890
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Disproportionate short stature, Hypoplasia of the corpus callosum, Rhizomelia, Megalencephaly, Se... OMIM:616482
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Polymicrogyria, Type II lissencephaly, Leukoencephalopathy OMIM:615181
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Polymicrogyria, Colpocephaly OMIM:618731
Pontocerebellar Hypoplasia, Type 13
Gait ataxia, Hypoplastic hippocampus, Hypoplasia of the corpus callosum, Microcephaly, Dandy-Walk... OMIM:618606
Pseudotrisomy 13 Syndrome
Renal agenesis, Hydrocephalus, Renal hypoplasia, Holoprosencephaly, Polymicrogyria, Microcephaly,... OMIM:264480
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Renal insuf... OMIM:600740
Congenital Sialidosis Type 2
Hydrocephalus, Ataxia, Umbilical hernia, Dysmetria, Abnormality of the kidney ORPHA:93400
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Exstrophy-Epispadias Complex
Spina bifida, Renal insufficiency, Horseshoe kidney, Bladder duplication, Abnormality of the kidn... ORPHA:322
Fanconi Anemia, Complementation Group D2
Agenesis of corpus callosum, Horseshoe kidney, Renal agenesis, Hypoplasia of the corpus callosum,... OMIM:227646
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, Hydronephrosis, Hydrocephalus, Umbilical hernia OMIM:104350
Raine Syndrome
Hydroureter, Neonatal death, Hydronephrosis, Cerebral calcification, Short stature, Microcephaly,... OMIM:259775
Axenfeld-Rieger Syndrome, Type 2
Hypospadias, Hydrocephalus, Umbilical hernia OMIM:601499
Beckwith-Wiedemann Syndrome
Polyhydramnios, Multiple renal cysts, Enlarged kidney, Congenital megaureter, Large placenta, Umb... ORPHA:116
Tetraamelia-Multiple Malformations Syndrome
Polyhydramnios, Agenesis of corpus callosum, Multicystic kidney dysplasia, Septo-optic dysplasia,... ORPHA:3301
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, Hy... ORPHA:2182
Meckel Syndrome, Type 6
Renal cyst, Hydrocephalus, Anencephaly OMIM:612284
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Abnormal periventricular white matter morphology, Ventriculomegaly, Abnormal cerebral white matte... ORPHA:395
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Diffuse cerebral atrophy, Corpus callosum atrophy, Dilation of lateral ventricles ORPHA:77299
Multiple Sulfatase Deficiency
Mucopolysacchariduria, Microcephaly, Hydrocephalus, Short stature ORPHA:585
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity, Abnormal basal ganglia MRI signal intensity ORPHA:444013
Holoprosencephaly-Postaxial Polydactyly Syndrome
Polyhydramnios, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Umbilical hernia, A... ORPHA:2166
Cousin Syndrome
Disproportionate short stature, Rhizomelia, Hydranencephaly, Hydronephrosis, Hydrocephalus OMIM:260660
Short-Rib Thoracic Dysplasia 12
Polyhydramnios, Cystic renal dysplasia, Renal hypoplasia, Holoprosencephaly, Anencephaly, Neonata... OMIM:269860
Alkuraya-Kucinskas Syndrome
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Micropenis, Hydrocephalus, Lissencep... OMIM:617822
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis, Communicating hydrocephalus, Short stature ORPHA:1064
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Glandular hypospadias, Abnormal caudate nucleus morphology, Choroid plexus cyst, Oligohydramnios,... ORPHA:293725
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hematuria, Cystathioninuria, Nephropathy, Cerebral cortical atrophy, Hemolytic-uremic syndrome, M... OMIM:277400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Agenesis of corpus callosum, Type II lissencephaly, Agyria, Microcephaly, Progressive microcephal... OMIM:615249
Holoprosencephaly 7
Semilobar holoprosencephaly, Panhypopituitarism, Hydrocephalus, Fusion of the left and right thal... OMIM:610828
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus ORPHA:261102
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Intrauterine growth retardation, Rhizomelia, Hydrocephalus, Short stature ORPHA:163966
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Hydrocephalus, Absent septum pellucidum, Chordee, Short stature, Hypospadias, Micro... OMIM:309801
1Q21.1 Microdeletion Syndrome
Hydrocephalus, Vesicoureteral reflux, Hydronephrosis, Short stature, Intrauterine growth retardat... ORPHA:250989
Hydrolethalus
Polyhydramnios, Hydrocephalus, Absent septum pellucidum, Arrhinencephaly, Anencephaly, Premature ... ORPHA:2189
Posterior Urethral Valve
Dysuria, Oligohydramnios, Pyelonephritis, Enuresis nocturna, Recurrent urinary tract infections, ... ORPHA:93110
Stromme Syndrome
Hydrocephalus, Stillbirth, Bilateral renal hypoplasia, Hydronephrosis, Microcephaly, Agenesis of ... OMIM:243605
Radial Aplasia, X-Linked
Penile hypospadias, Hydrocephalus OMIM:312190
Tay-Sachs Disease
Dysmetria, Ventriculomegaly, Hypointensity of cerebral white matter on MRI, Abnormal thalamic MRI... ORPHA:845
Meckel Syndrome, Type 3
Hydrocephalus, Dandy-Walker malformation, Multicystic kidney dysplasia OMIM:607361
Focal Facial Dermal Dysplasia Type Iv
Microcephaly, Hydrocephalus ORPHA:398189
Griscelli Syndrome
Ataxia, Hydrocephalus, Short stature ORPHA:381
Dubowitz Syndrome
Aplasia/Hypoplasia of the corpus callosum, Postnatal growth retardation, Hypospadias, Hydronephro... ORPHA:235
Kabuki Syndrome
Crossed fused renal ectopia, Ventriculomegaly, Duplicated collecting system, Abnormal localizatio... ORPHA:2322
Smith-Lemli-Opitz Syndrome
Renal agenesis, Renal hypoplasia, Hypoplasia of the corpus callosum, Holoprosencephaly, Growth de... OMIM:270400
Thakker-Donnai Syndrome
Intrauterine growth retardation, Agenesis of corpus callosum, Communicating hydrocephalus, Hydron... ORPHA:1780
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus OMIM:613776
Cole-Carpenter Syndrome 2
Short stature, Postnatal growth retardation, Hydrocephalus, Oligohydramnios OMIM:616294
Thanatophoric Dysplasia Type 1
Polyhydramnios, Lethal short-limbed short stature, Abnormality of the kidney, Ventriculomegaly, I... ORPHA:1860
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Pachygyria, Hypoplasia of the corpus callosum, Megalencephaly, Polymicrogyria, Thick corpus callo... OMIM:603387
Hurler Syndrome
Short stature, Urinary glycosaminoglycan excretion, Hydrocephalus, Umbilical hernia OMIM:607014
Campomelic Dysplasia
Polyhydramnios, Disproportionate short-limb short stature, Hydronephrosis, Hydrocephalus, Neonata... OMIM:114290
Hemiparkinsonism-Hemiatrophy Syndrome
Cerebral cortical hemiatrophy, Dilation of lateral ventricles ORPHA:306669
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Polyhydramnios, Growth delay, Spinal dysraphism, Large placenta, Postnatal growth retardation, Pr... ORPHA:96334
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrops fetalis, Increased placental thickness, Severe short stature, Single umbilical artery, Mi... ORPHA:1865
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Polyhydramnios, Hydrocephalus, Ventriculomegaly, Hypoplasia of penis, Agenesis of corpus callosum ORPHA:1812
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis, Absent septum pellucidum OMIM:307000
Kohlschutter-Tonz Syndrome-Like
Ventouse delivery, Oligohydramnios, Ventriculomegaly, Recurrent urinary tract infections, Abnorma... OMIM:619229
Mosaic Trisomy 1
Polyhydramnios, Penile hypospadias, Renal cortical cysts, Increased nuchal translucency, Polymicr... ORPHA:1692
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Delayed puberty, Short stature, Decre... OMIM:614963
Glutamine Deficiency, Congenital
Subependymal cysts, Neonatal death, Hypoplasia of the corpus callosum, Dilation of lateral ventri... OMIM:610015
Intellectual Developmental Disorder, Autosomal Dominant 65
Ataxia, Dysgenesis of the hippocampus, Agenesis of corpus callosum, Noncommunicating hydrocephalus OMIM:619320
Fanconi Anemia
Spina bifida, Abnormal preputium morphology, Renal insufficiency, Abnormal renal morphology, Olig... ORPHA:84
Cerebral Visual Impairment
Abnormal cerebral white matter morphology, Abnormal cerebral morphology, Premature birth, Focal c... ORPHA:447788
Hydrocephalus, Normal-Pressure, 1
Urinary incontinence, Normal pressure hydrocephalus OMIM:236690
Iniencephaly
Polyhydramnios, Spina bifida, Hydrocephalus, Holoprosencephaly, Rhizomelia, Spinal dysraphism, An... ORPHA:63259
Mirage Syndrome
Microphallus, Recurrent urinary tract infections, Short stature, Intrauterine growth retardation,... OMIM:617053
7Q11.23 Microduplication Syndrome
Ventriculomegaly, Growth delay, Unilateral renal agenesis, Enuresis, Hydronephrosis, Short statur... ORPHA:96121
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Truncal ataxia, Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Hydroceph... OMIM:220219
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Hemifacial Microsomia
Hydrocephalus, Branchial anomaly, Multicystic kidney dysplasia, Ureteropelvic junction obstructio... OMIM:164210
Mucopolysaccharidosis, Type Vi
Dermatan sulfate excretion in urine, Disproportionate short-trunk short stature, Hydrocephalus, U... OMIM:253200
Niemann-Pick Disease Type C
Hydrops fetalis, Narcolepsy, Frontal cortical atrophy, Progressive gait ataxia, Hypoplasia of the... ORPHA:646
47,Xyy Syndrome
Hypospadias, Increased circulating gonadotropin level, Micropenis, Hydrocephalus ORPHA:8
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy, Ataxia OMIM:604121
Thoracic Dysplasia-Hydrocephalus Syndrome
Ataxia, Communicating hydrocephalus, Short stature ORPHA:1861
Malan Overgrowth Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Episodic ataxia, Dilation of lateral ventricles ORPHA:420179
Peters Plus Syndrome
Polyhydramnios, Postnatal growth retardation, Cerebral cortical atrophy, Spina bifida occulta, Re... ORPHA:709
Holoprosencephaly
Panhypopituitarism, Aplasia/Hypoplasia of the corpus callosum, Branchial anomaly, Anterior hypopi... ORPHA:2162
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Monosomy 18Q
Diffuse white matter abnormalities, Hydrocephalus, Micropenis, Growth delay, Short stature, Micro... ORPHA:1600
Facial Dysmorphism With Multiple Malformations
Hydrocephalus, Abnormalities of placenta or umbilical cord, Hydronephrosis, Intrauterine growth r... OMIM:227255
Otopalatodigital Syndrome, Type Ii
Stillbirth, Postnatal growth retardation, Hydronephrosis, Short stature, Hypospadias, Hydrocephalus OMIM:304120
Cardiofaciocutaneous Syndrome 1
Polyhydramnios, Aplasia/Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Premature b... OMIM:115150
Gorlin Syndrome
Cerebral calcification, Hydrocephalus ORPHA:377
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Oligohydramnios, Preeclampsia, Hydrocephalus ORPHA:163596
Glutaric Acidemia I
Glutaric aciduria, Ketonuria, Choreoathetosis, Dilation of lateral ventricles OMIM:231670
Acrofacial Dysostosis 1, Nager Type
Unilateral renal agenesis, Aqueductal stenosis, Polymicrogyria, Premature birth, Short stature, M... OMIM:154400
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Ventriculomegaly, Simplified gyral pattern, Colpocephaly, Lissencephaly OMIM:615219
Albers-Schönberg Osteopetrosis
Hydrocephalus, Short stature ORPHA:53
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Renal hypoplasia, Duplicated collecting system, Renal tubular... OMIM:118450
H Syndrome
Abnormality of the kidney, Enlarged kidney, Delayed puberty, Short stature, Micropenis, Hydroceph... ORPHA:168569
Osteopathia Striata With Cranial Sclerosis
Polyhydramnios, Oligohydramnios, Multicystic kidney dysplasia, Spina bifida occulta, Short statur... OMIM:300373
Apert Syndrome
Agenesis of corpus callosum, Absent septum pellucidum, Ventriculomegaly, Megalencephaly, Hydronep... OMIM:101200
Paganini-Miozzo Syndrome
Urinary incontinence, Dilation of lateral ventricles OMIM:301025
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Hypoplasia of the corpus callosum, Fusion of the left and right thalami... OMIM:619306
Plasminogen Deficiency, Type I
Nephritis, Nephrolithiasis, Hydrocephalus, Dandy-Walker malformation OMIM:217090
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus OMIM:613603
Mental Retardation, Autosomal Dominant 35
Ventriculomegaly, Hydrocephalus OMIM:616355
Opitz-Kaveggia Syndrome
Umbilical hernia, Short stature, Hypospadias, Hydrocephalus, Partial agenesis of the corpus callosum OMIM:305450
Oculocerebrocutaneous Syndrome
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hydrocephalus, Dandy... ORPHA:1647
Hajdu-Cheney Syndrome
Umbilical hernia, Renal cyst, Short stature, Hypospadias, Hydrocephalus OMIM:102500
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Amelocerebrohypohidrotic Syndrome
Hydrocephalus, Short stature ORPHA:1946
Myopathy, Centronuclear, X-Linked
Polyhydramnios, Decreased fetal movement, Hydrocephalus OMIM:310400
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Peho Syndrome
Porencephalic cyst, Ventriculomegaly, Cerebral cortical atrophy, Microcephaly, Hydrocephalus ORPHA:2836
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oligohydramnios, Enlarged kidney, Growth delay, Recurrent urinary tract infe... ORPHA:731
Joubert Syndrome
Aplasia/Hypoplasia of the corpus callosum, Polymicrogyria, Hydrocephalus, Ataxia ORPHA:475
Hyperphosphatasia With Mental Retardation Syndrome 1
Abnormal renal morphology, Cerebral cortical atrophy, Athetosis, Hydrocephalus OMIM:239300
Chromosome 6Pter-P24 Deletion Syndrome
Umbilical hernia, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation OMIM:612582
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly, R... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly, R... ORPHA:363958
Otopalatodigital Syndrome Type 2
Ureteral obstruction, Hydronephrosis, Hypospadias, Myelomeningocele, Hydrocephalus ORPHA:90652
Hydrolethalus Syndrome 1
Polyhydramnios, Agenesis of corpus callosum, Stillbirth, Absent septum pellucidum, Arrhinencephal... OMIM:236680
Melanosis, Neurocutaneous
Dandy-Walker malformation, Hydrocephalus, Choroid plexus papilloma OMIM:249400
Holoprosencephaly 9
Panhypopituitarism, Holoprosencephaly, Anterior pituitary agenesis, Decreased response to growth ... OMIM:610829
Basel-Vanagaite-Smirin-Yosef Syndrome
Cavum septum pellucidum, Hypoplasia of the corpus callosum, Cerebral atrophy, Male urethral meatu... ORPHA:464738
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Growth delay, Dilation of lateral ventricles ORPHA:85290
Weiss-Kruszka Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly OMIM:618619
Crouzon Disease
Hydrocephalus ORPHA:207
Cardiofaciocutaneous Syndrome
Cerebral cortical atrophy, Premature birth, Hydronephrosis, Short stature, Hydrocephalus ORPHA:1340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Pachygyria, Type II lissencephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Decreased... OMIM:614643
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus callosum OMIM:617296
Joubert Syndrome With Hepatic Defect
Aplasia/Hypoplasia of the corpus callosum, Nephropathy, Ataxia, Multicystic kidney dysplasia, Ren... ORPHA:1454
Cockayne Syndrome B
Renal insufficiency, Normal pressure hydrocephalus, Cerebral atrophy, Postnatal growth retardatio... OMIM:133540
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrops fetalis, Anencephaly, Polymicrogyria, Micropenis, Hydrocephalus OMIM:616546
Pentalogy Of Cantrell
Renal agenesis, Anencephaly, Renal dysplasia, Hypospadias, Hydrocephalus ORPHA:1335
Gracile Bone Dysplasia
Micropenis, Hydrocephalus, Short stature OMIM:602361
Jacobsen Syndrome
Holoprosencephaly, Hypospadias, Intrauterine growth retardation, Microcephaly, Hydrocephalus OMIM:147791
Mycophenolate Mofetil Embryopathy
Hydrops fetalis, Agenesis of corpus callosum, Hydrocephalus, Ectopic kidney ORPHA:268249
Joubert Syndrome With Ocular Defect
Polymicrogyria, Agenesis of corpus callosum, Hydrocephalus, Ataxia ORPHA:220493
Pycnodysostosis
Hydrocephalus, Short stature ORPHA:763
Cockayne Syndrome A
Renal insufficiency, Normal pressure hydrocephalus, Cerebral atrophy, Ataxia, Basal ganglia calci... OMIM:216400
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Polymicrogyria, Hydrocephalus ORPHA:60040
Marfanoid-Progeroid-Lipodystrophy Syndrome
Oligohydramnios, Premature birth, Intrauterine growth retardation, Hydrocephalus, Asymmetric vent... OMIM:616914
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Microcephaly, Ataxia, Hydrocephalus, Short stature ORPHA:220295
Mucopolysaccharidosis Type 1
Mucopolysacchariduria, Hydrocephalus, Short stature, Paresthesia ORPHA:579
Icf Syndrome
Short stature, Communicating hydrocephalus, Umbilical hernia ORPHA:2268
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydronephrosis, Short stature, Hypospadias, Microcephaly, Micropenis, Hydrocephalus ORPHA:163979
22Q11.2 Deletion Syndrome
Polyhydramnios, Spina bifida, Multiple renal cysts, Renal hypoplasia, Arrhinencephaly, Umbilical ... ORPHA:567
Aicardi Syndrome
Cavum septum pellucidum, Spina bifida, Pachygyria, Choroid plexus cyst, Dilation of lateral ventr... OMIM:304050
Aymé-Gripp Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Postnatal growth retardation, Cerebral corti... ORPHA:1272
Cole-Carpenter Syndrome 1
Short stature, Communicating hydrocephalus, Hydrocephalus OMIM:112240
Autosomal Recessive Spastic Paraplegia Type 11
Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Hypoplasia of the corpus ca... ORPHA:2822
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Heparan sulfate excretion in urine, Cerebral calcification, Nephrotic syndrome, ... ORPHA:505248
Trisomy 8P
Hydrocephalus, Fetal pyelectasis, Hydronephrosis, Microcephaly, Nephrocalcinosis, Micropenis, Age... ORPHA:264450
Meckel Syndrome
Urethral atresia, Aplasia/Hypoplasia of the corpus callosum, Oligohydramnios, Anencephaly, Multic... ORPHA:564
Isotretinoin-Like Syndrome
Intrauterine growth retardation, Microcephaly, Hydrocephalus, Postnatal growth retardation ORPHA:2306
Tetrasomy 5P
Lipoma of corpus callosum, Hydrocephalus, Postnatal growth retardation ORPHA:3309
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Agyria, Cerebral calcificati... OMIM:616538
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Maternal virilization in pregnancy, Elevated circulating luteinizing hormone level, Stillbirth, A... ORPHA:95699
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Neonatal Lupus Erythematosus
Abnormal cerebral white matter morphology, Hydrocephalus, Basal ganglia calcification ORPHA:398124
Dextrocardia
Abnormal renal morphology, Hydrocephalus, Abnormality of the ureter ORPHA:1666
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Hypoplasia of the corpus callosum, Ventriculomegaly, Unilateral renal agenesis, Ag... ORPHA:457284
Oeis Complex
Renal agenesis, Hydroureter, Duplicated collecting system, Hydronephrosis, Vesicovaginal fistula,... OMIM:258040
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Diffuse cerebral atrophy, Dilation of lateral ventricles ORPHA:363654
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Renal hypoplasia, Short stature, Intrauterine growth retardation, Microcephaly, Micropenis, Hydro... OMIM:619321
Acquired Aneurysmal Subarachnoid Hemorrhage
Increased CSF lactate, Hyperglycorrhachia, Hydrocephalus, Hypopituitarism ORPHA:90065
Narcolepsy 3
Narcolepsy OMIM:609039
Narcolepsy 1
Narcolepsy OMIM:161400
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Limb Body Wall Complex
Spina bifida, Abnormality of the kidney, Short umbilical cord, Abnormal insertion of umbilical co... ORPHA:2369
Adams-Oliver Syndrome
Porencephalic cyst, Premature birth, Hydrocephalus, Periventricular leukomalacia ORPHA:974
Posterior Meningocele
Enuresis, Neural tube defect, Meningocele, Occipital meningocele, Lipomyelomeningocele, Hydroceph... ORPHA:268810
Tetrasomy 9P
Multiple renal cysts, Pachygyria, Horseshoe kidney, Recurrent urinary tract infections, Umbilical... ORPHA:3310
Monosomy 9Q22.3
Ventriculomegaly, Umbilical hernia, Calcification of falx cerebri, Nephroblastoma, Hydrocephalus ORPHA:77301
Peters-Plus Syndrome
Polyhydramnios, Hydrocephalus, Renal hypoplasia, Rhizomelia, Ventriculomegaly, Cerebral atrophy, ... OMIM:261540
Osteogenesis Imperfecta
Paresthesia, Rhizomelia, Ventriculomegaly, Growth delay, Umbilical hernia, Ataxia, Somatic sensor... ORPHA:666
Narcolepsy 7
Narcolepsy OMIM:614250
6Q Terminal Deletion Syndrome
Gait ataxia, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Polymi... ORPHA:75857
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thalamic hemorrhage, Abnormality of the basal ganglia, Cerebral calcification, Abnormality of the... ORPHA:464321
Genitourinary And/Or Brain Malformation Syndrome
Agenesis of corpus callosum, Urogenital sinus anomaly, Absent septum pellucidum, Chordee, Holopro... OMIM:618820
Tenorio Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Cavum septum pellucidum, Hydrocephalus OMIM:616260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Pachygyria, Type II lissencephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum... OMIM:236670
Alexander Disease
Hydrocephalus, Chorea, Megalencephaly, Aqueductal stenosis, Ataxia, Cerebral calcification, Agene... ORPHA:58
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Aqueductal stenosis, Short stature, Renal artery stenosis OMIM:162200
Mucopolysaccharidosis Type 3
Mucopolysacchariduria, Ventriculomegaly, Ataxia, Umbilical hernia, Heparan sulfate excretion in u... ORPHA:581
Popov-Chang syndrome
Hydrocephalus, Short stature OMIM:618428
Desmosterolosis
Aplasia/Hypoplasia of the corpus callosum, Rhizomelia, Ventriculomegaly, Microcephaly, Hydrocepha... OMIM:602398
Hajdu-Cheney Syndrome
Multiple renal cysts, Umbilical hernia, Delayed puberty, Short stature, Hypospadias, Hydrocephalus ORPHA:955
Distal 22Q11.2 Microduplication Syndrome
Microcephaly, Branchial fistula, Hydrocephalus, Unilateral renal agenesis ORPHA:261337
Achondroplasia
Rhizomelia, Disproportionate short stature, Hydrocephalus ORPHA:15
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Hypoplasia of the... ORPHA:2148
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Pachygyria, Type II lissencephaly, Agenesis of corpus callosum, Holoprosencephaly, Polymicrogyria... OMIM:253800
Muenke Syndrome
Hydrocephalus ORPHA:53271
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus OMIM:614195
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Cavum septum pellucidum, Abnormal cerebral white matter morphology, Ataxia, Abnormal corpus callo... ORPHA:457279
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus, Umbilical hernia ORPHA:1555
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Polyhydramnios, Dysplastic corpus callosum, Increased nuchal translucency, Hyperintensity of cere... ORPHA:544488
Semilobar Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Growth delay, Abnormal hypothalamus physiology, ... ORPHA:220386
Alobar Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Growth delay, Abnormal hypothalamus physiology, ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Growth delay, Abnormal hypothalamus physiology, ... ORPHA:93926
Lobar Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Growth delay, Abnormal hypothalamus physiology, ... ORPHA:93924
Tuberous Sclerosis Complex
Renal angiomyolipoma, Renal cell carcinoma, Cortical dysplasia, Chronic kidney disease, Cortical ... ORPHA:805
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus, Absent septum pellucidum, Abnormal penis morphology, Severe short stature, Hypospa... ORPHA:2658
Focal Dermal Hypoplasia
Horseshoe kidney, Hydrocephalus, Bifid ureter, Umbilical hernia, Hydronephrosis, Spina bifida occ... OMIM:305600
Fontaine Progeroid Syndrome
Oligohydramnios, Hypoplasia of the corpus callosum, Umbilical hernia, Neonatal death, Short statu... OMIM:612289
Medulloblastoma
Ataxia, Progressive cerebellar ataxia, Cerebellar ataxia associated with quadrupedal gait, Dysmet... ORPHA:616
Alpha-Mannosidosis, Infantile Form