Disease #07151 (BPS1 (Popliteal pterygium syndrome, Bartsocas-Papas type 1), OMIM:263650)

Official abbreviation	BPS1
Name	Popliteal pterygium syndrome, Bartsocas-Papas type 1
OMIM ID	263650
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	RIPK4
Associated tissues	-
Disease features	orofacial clefting; pterygia; ankyloblepharon; oral synechia; syndactyly; genital hypoplasia; sparse hair; no lip pits; nails; (oligodontia)
Remarks	-
Date created	2025-02-06 15:46:13 +01:00 (CET)
Date last edited	N/A

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Global Variome shared LOVD