Disease #03196 (BCYM4 (brachyolmia, type 4, with mild epiphyseal and metaphyseal changes (BCYM-4, spondyloepimetaphyseal dysplasia, Pakistani type)), OMIM:612847)

Official abbreviation BCYM4
Name brachyolmia, type 4, with mild epiphyseal and metaphyseal changes (BCYM-4, spondyloepimetaphyseal dysplasia, Pakistani type)
OMIM ID 612847
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene PAPSS2
Associated tissues -
Disease features autosomal recessive
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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00426342 209586 - - M yes Pakistan - - - - - BCYM4 Short stature, Platyspondyly PAPSS2 PAPSS2 1 1 Andreas Laner
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