Disease #04283 (GAMOS1 (Galloway-Mowat syndrome (GAMOS)), OMIM:251300)

Official abbreviation GAMOS1
Name Galloway-Mowat syndrome (GAMOS)
OMIM ID 251300
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 5
Phenotype entries for this disease 5
Associated with 1 gene WDR73
Associated tissues -
Disease features -
Remarks -
Date created 2015-06-16 08:38:15 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

5 entries on 1 page. Showing entries 1 - 5.
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00039414 - WDR73 - M yes Lebanon Lebanon - - - - GAMOS1 - WDR73, ZNF592 WDR73 1 5 Andreas Janecke
00043750 - PubMed: Nicolas 2010, Journal: Nicolas 2010 6-generation family, 6 affecteds (1F, 5M), unaffected heterozygous carriers - yes Lebanon Druze - - - - GAMOS1 see paper; cerebellar ataxia with mental retardation, optic atrophy, skin abnormalities, ... ZNF592 ZNF592 1 6 Johan den Dunnen
00043751 - PubMed: Colin 2014, Journal: Colin 2014 2-generation family, 2 affected males, unaffected heterozygous carrier parents M no Morocco - - - - - GAMOS1 see paper; secondary microcephaly, severe neurological impairment, nephrotic syndrome (one), peripheral hypertonia, axial hypotonia (at 4m), nystagmus (one), epileptic spasms, ID; brain MRI cerebellar atrophy, thin corpus callosum (one), subtentorial atrophy (one); facial dysmorphy, optic atrophy, ... WDR73 WDR73 1 2 Johan den Dunnen
00043752 - PubMed: Colin 2014, Journal: Colin 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents/brother M yes Turkey Turkish - - - - GAMOS1 see paper; focal segmental glomerulosclerosis, podocyte hypertrophy, no end-stage kidney disease; head circumference (5m -2 SD, 10y -3 SDs), hypertonia, ID, spasticity, cerebellar atrophy, thin corpus callosum, subtentorial atrophy, ventricular dilation, facial dysmorphy, abnormal visual evoked potentials, optic atrophy, ... WDR73 WDR73 1 1 Johan den Dunnen
00399294 166720 - - F yes Syria - - - - - GAMOS1 Global developmental delay, Profound global developmental delay, Short stature, Microcephaly, Spasticity, Nystagmus, Horizontal pendular nystagmus, Cerebellar atrophy, Abnormality of the basal ganglia, Abnormality of extrapyramidal motor function WDR73 WDR73 1 1 Andreas Laner
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