Scapuloperoneal spinal muscular atrophy

Disease Term Disease ID Gene Symbol Classification References Source
SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY
181405431255OMIM:181405
TRPV4 Causal
20037587 20037588
CTD ClinVar HPO Orphanet
SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL DOMINANT
MONDO:0008408
TRPV4 Unknown — GenCC