Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Rett syndrome

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

Microphthalmia

A developmental anomaly characterized by abnormal smallness of one or both eyes.

Total: 1

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PMID (PMCID)
9288105	MIXED_SAMPLE
	Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing.
	Ryan SG, Chance PF, Zou CH, Spinner NB, Golden JA, Smietana S. Nat Genet. 1997;17(1):92-5.
	The same inheritance pattern has been proposed for Rett syndrome, Aicardi syndrome and microphthalmia with linear skin defects, but in these sporadic conditions, evidence of male lethality is lacking.