Disease #00944

Official abbreviation -
Name Goldberg-Shprintzen megacolon syndrome
OMIM ID 609460
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 2
Phenotype entries for this disease 1
Associated with 1 gene KIAA1279
Associated tissues -
Disease features -
Remarks -


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00163778 - - - - - - - - 0 - - Goldberg-Shprintzen megacolon syndrome foca dermal hypoplasia (Goltz-Gorlin- oder Goltz-Syndrom) PORCN PORCN 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00240322 - - - - - - - - 0 - - Goldberg-Shprintzen megacolon syndrome - KIAA1279 KIAA1279 1 1 Damien Bruno
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