Mental retardation , X linked with seizures, short stature and midface hypoplasia (medical condition): A rare inherited disorder characterized mainly by mental retardation, seizures, short stature and facial anomalies. The disorder is caused by the absence of a compound needed to transport creatine and thus creatine levels may be normal or high, but the body is unable to utilize it.
See also:
Creatine deficiency, X-linked:
»Introduction: Creatine deficiency, X-linked
»Symptoms of Creatine deficiency, X-linked
These medical condition or symptom topics may be relevant to medical information for Mental retardation , X linked with seizures, short stature and midface hypoplasia:
Mental retardation , X linked with seizures, short stature and midface hypoplasia is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Mental retardation , X linked with seizures, short stature and midface hypoplasia, or a subtype of Mental retardation , X linked with seizures, short stature and midface hypoplasia,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when if affects 1 person per 2,000.
They list Mental retardation , X linked with seizures, short stature and midface hypoplasia as a "rare disease".
Source - Orphanet
Mental retardation , X linked with seizures, short stature and midface hypoplasia: Another name for Creatine deficiency, X-linked (or close medical condition association).
»Introduction: Creatine deficiency, X-linked
»Symptoms of Creatine deficiency, X-linked
Some of the symptoms of Mental retardation , X linked with seizures, short stature and midface hypoplasia incude:
Source - NIH
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