Disease #00307 (HYDRO (hydrocephaly (HYDRO)))

Official abbreviation HYDRO
Name hydrocephaly (HYDRO)
OMIM ID -
Inheritance -
Individuals reported having this disease 17
Phenotype entries for this disease 16
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2014-01-19 12:32:13 +01:00 (CET)
Date last edited 2015-12-07 07:11:25 +01:00 (CET)


Individuals

17 entries on 1 page. Showing entries 1 - 17.
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00004258 - PubMed: Putoux 2011 consanguineous family ? yes Algeria - - - - - HYDRO arhinencephaly; Vermis: molar tooth sign; Corpus callosum: absent; Upper limb polydactyly: postaxial right and left; lower limb polydactyly: preaxial right and left; Cleft: palate; hallux duplication; micrognathia KIF7 KIF7 2 4 Tania Attie-Bitach
00004259 - PubMed: Putoux 2011 consanguineous family ? yes Algeria - - - - - HYDRO Corpus callosum: ?; hallux duplication KIF7 KIF7 2 4 Tania Attie-Bitach
00011647 - - 2-generation family, father of 00016304, healthy parents and brother do not carry de novo variant; performed exome/genome analysis, detected possibly causative variant but have not yet sufficient evidence to publish - please contact me M no Netherlands - - 1 - - CMT2, HYDRO peripheral neuropathy (demyelinating motor sensory neuropathy ), dysmorphic facial features , hypospadias, craniosynostosis, minor insufficiency of the aortic valve, mild glaucoma, mild learning disabilities DARS DARS 1 2 Thomas Potjer
00016304 - - 2-generation family, son of 00011647 M no Netherlands - - - - - HYDRO - DARS DARS 1 1 Thomas Potjer
00017039 - PubMed: Failler 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - latino - - - - HYDRO, ID, NPHP1 prominent microcystic tubular dilatations associated with tubular atrophy, interstitial fibrosis, neurological alterations, including speech delay, intellectual disability, hydrocephalus supported by cerebral MRI in combination with ophthalmologic defects, strabismus, severe phenotype with ESRD at 1y, hydrocephalus, facial dysmorphism, heart anomaly complicated by triple X syndrome (47, XXX) CEP83 CEP83 2 1 Marianne Vos (LOVD-team)
00181103 - - - - - - - - - - - HYDRO Hydrocephalus (HP:0000238) KIF4A KIF4A 1 1 Isabel Filges
00433318 Pat21 PubMed: Jacquemin 2023 2-generation family, 1 affected, unaffected non-carrier M - France - - - - - HYDRO hydrocephaly; laterality defect; anal imperforation, absence of pulmonary segmentation, cardiopathy, bilobate thymus, unique ombilical artery, enlarged renal bassinet; MRI triventricular hydrocephalus, Sylvius aqueduct stenosis, corpus callosum agenesis hypoplasia of bulbaire pyramids - ARID1A 1 1 Johan den Dunnen
00433319 Fam15Pat1 PubMed: Jacquemin 2023 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no Finland - - - - - HYDRO hydrocephaly (OFC 37cm (+1SD)); MRI pachygyria - CRADD 1 2 Johan den Dunnen
00433320 Fam15Pat2 PubMed: Jacquemin 2023 brother M no Finland - - - - - HYDRO hydrocephaly; macrocephaly (OFC 40.5cm (+3SD)); MRI pachygyria - CRADD 1 1 Johan den Dunnen
00433321 Fam16Pat1/2/3 PubMed: Jacquemin 2023 2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents F;M yes Pakistan - - - - - HYDRO hydrocephaly - KIDINS220 1 3 Johan den Dunnen
00433322 Pat26 PubMed: Jacquemin 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Belgium - - - - - HYDRO hydrocephaly; MRI 22w-H severe, small cerebellum, Sylvius aqueduct agenesis, mild hypoplasia vermis and cerebellum - POMGNT1 1 1 Johan den Dunnen
00433323 Pat17 PubMed: Jacquemin 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Lebanon - - - - - HYDRO hydrocephaly - POMT2 1 1 Johan den Dunnen
00433324 Fam28Pat1 PubMed: Jacquemin 2023 2-generation family, 2 affected male fetuses, unaffected heterozygous carrier parents M yes Turkey - - - - - HYDRO hydrocephaly; MRI Sylvius aqueduct dysplasia, absence of bulbaire pyramids and corpus callosum - RNPC3 1 2 Johan den Dunnen
00433325 Fam28Pat2 PubMed: Jacquemin 2023 male fetus M yes Turkey - - - - - HYDRO hydrocephaly; MRI cerebellum hypoplasia, enlarged lateral ventricles, atrophy of cerebral parenchyma - RNPC3 1 1 Johan den Dunnen
00433326 Pat10 PubMed: Jacquemin 2023 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Lebanon - - - - - HYDRO hydrocephaly - TIE1 1 2 Johan den Dunnen
00433327 PatD;Pat22 PubMed: Duerinckx 2021, PubMed: Jacquemin 2023 2-generation family, 1 affected, unaffected parents F no Belgium - - - - - HYDRO hydrocephaly; pear-shaped head; laterality defect; MRI enlarged lateral ventricles, hemicerebellum hyploplasia, small cerebellum, cortical atrophy, corpus callosum thin and stretched, globally smaller brain, cyst on midline (supra and infra tentoriel), encephalocele - DNAH2 2 1 Johan den Dunnen
00433328 Pat1.1 PubMed: Jacquemin 2023 - F - - Morocorpus callosuman - - - - HYDRO hydrocephaly; severe encephalopathy; severe intellectual deficiency; MRI Sylvius aqueduct stenosis - IFT172, TTC21B 2 1 Johan den Dunnen
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