Disease #02647 (SMC1 (dysplasia, Smith-McCort, type 1), OMIM:607326)

Official abbreviation	SMC1
Name	dysplasia, Smith-McCort, type 1
OMIM ID	607326
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	DYM
Associated tissues	-
Disease features	height below 2SD, normal OFC, short neck, short trunk, barrel chest/pectus carinatum, abdominal distension, restricted major joint mobility, waddling gait, no intellectual disability/global developmental delay, no odontoid hypoplasia, platyspondyly, double hump vertebral bodies, short and broad ilia with basilar hypoplasia, lacy iliac crests, rhizomelic upper/lower limbs, irregularities epiphyses, irregularities metaphysis, shortened metacarpals, shortened phalanges, genua valga
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2023-01-31 21:01:04 +01:00 (CET)

Global Variome shared LOVD