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Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 (DOID:9005524)
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Parent Terms Term With Siblings Child Terms
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 
The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 (ATRX) gene on chromosome Xq13 and are characterized primarily by 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. (OMIM)

Exact Synonyms: Carpenter-Waziri syndrome ;   Chudley Lowry Hoar syndrome ;   Chudley mental retardation syndrome ;   Chudley syndrome 1 ;   Chudley-Lowry Syndrome ;   Holmes-Gang syndrome ;   MRXHF1 ;   SFM1 ;   SFMS ;   Smith-Fineman-Myers syndrome 1 ;   X-Linked Mental Retardation-Hypotonic Facies Syndrome ;   X-linked hypogonadism gynecomastia mental retardation ;   XLMR-HYPOTONIC FACIES SYNDROME
Alternate IDs: OMIM:309580
Replaced By: DOID:0080982

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