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Definition

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.

Acronym

MRXHF1

Synonyms

Carpenter-Waziri syndrome
Chudley-Lowry syndrome
CWS
Holmes-Gang syndrome
JMS
Juberg-Marsidi syndrome
Mental retardation X-linked with growth retardation deafness and microgenitalism
SFM1
SFMS
Smith-Fineman-Myers syndrome 1
XLMR-hypotonic facies syndrome

Keywords

Mental retardation

 
Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.

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