Skeletal Defects, Genital Hypoplasia, and Mental Retardation (SGYMR)

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OMIM® 57 612447 KEGG 36 H00969 MeSH 44 D008607 D009139

MedGen 41 C2676231 SNOMED-CT via HPO 68 123983008 128602000 14582003 204878001 205460009 22066006 228156007 237836003 247578003 258211005 271611007 301348000 34911001 91138005 93255008 more

KEGG : ³⁶ This syndrome is associated with mental retardation, craniofacial dysmorphism, disproportionate short stature, and genital hypoplasia. Skeletal dysplasia includes absence of the thumbs, hypoplasia of the radius and ulna, and additional vertebral bodies and ribs. The causative gene is ZBTB16, one of the fusion partners with retinoic acid receptor-alpha in acute promyelocytic leukemia.

MalaCards based summary : Skeletal Defects, Genital Hypoplasia, and Mental Retardation, is also known as sgymr. An important gene associated with Skeletal Defects, Genital Hypoplasia, and Mental Retardation is ZBTB16 (Zinc Finger And BTB Domain Containing 16). Affiliated tissues include bone, and related phenotypes are intellectual disability and delayed skeletal maturation

UniProtKB/Swiss-Prot : ⁷² Skeletal defects, genital hypoplasia, and mental retardation: A disorder characterized by mental retardation, craniofacial dysmorphism, microcephaly and short stature. Additional features include absence of the thumbs, hypoplasia of the radii and ulnae, additional vertebrae and ribs, retarded bone age and genital hypoplasia.

More information from OMIM: 612447

Clinical features from OMIM®:

612447 (Updated 05-Apr-2021)

Search Clinical Trials , NIH Clinical Center for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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