Disease #00677 (SRTD6;SRPS2A (dysplasia, thoracic, short-rib, type 6 with/without polydactyly (SRTD-6, short rib polydactyly syndrome 2A (SRPS-2A))), OMIM:263520)

Official abbreviation SRTD6;SRPS2A
Name dysplasia, thoracic, short-rib, type 6 with/without polydactyly (SRTD-6, short rib polydactyly syndrome 2A (SRPS-2A))
OMIM ID 263520
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive, Digenic recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene NEK1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00380717 185159 - - M likely Turkey - - - - - SRTD6;SRPS2A prenatal ultrasound abnormalities: Short diaphyses, Ascites, Thickened nuchal skin fold, Hyperechogenic kidneys, Renal cyst, Atrioventricular canal defect, Bladder outlet obstruction NEK1 NEK1 1 1 Andreas Laner
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