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X-linked intellectual disability-hypotonic face syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Mental retardation-hypotonic facies covers a group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features.
Uniprot Description A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSHF1 is a syndromic mental retardation. Clinical features include severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women. Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.
Mondo Term and Equivalent IDs
MONDO:0010663:  X-linked intellectual disability-hypotonic face syndrome
GARD:0000081: 
Orphanet:73220: 
UMLS:CN205653: