SGYMR
MCID: SKL011
MIFTS: 18
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Skeletal Defects, Genital Hypoplasia, and Mental Retardation (SGYMR)
Categories:
Bone diseases, Genetic diseases, Mental diseases, Neuronal diseases
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MalaCards integrated aliases for Skeletal Defects, Genital Hypoplasia, and Mental Retardation:
Characteristics:HPO:32
skeletal defects, genital hypoplasia, and mental retardation:
Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Anatomical: Neuronal diseases Bone diseases Mental diseases |
UniProtKB/Swiss-Prot
:
75
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.
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
Description from OMIM:
612447
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:612447Human phenotypes related to Skeletal Defects, Genital Hypoplasia, and Mental Retardation:32 (show all 16)
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MalaCards organs/tissues related to Skeletal Defects, Genital Hypoplasia, and Mental Retardation:41
Bone
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UniProtKB/Swiss-Prot genetic disease variations for Skeletal Defects, Genital Hypoplasia, and Mental Retardation:75
ClinVar genetic disease variations for Skeletal Defects, Genital Hypoplasia, and Mental Retardation:6
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Search
GEO
for disease gene expression data for Skeletal Defects, Genital Hypoplasia, and Mental Retardation.
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