" /> Facial abnormalities, kyphoscoliosis, and mental retardation - CISMeF





Preferred Label : Facial abnormalities, kyphoscoliosis, and mental retardation;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Jammes et al. (1973) described 2 brothers with a new mental retardation syndrome characterized by macrocephaly, hypertelorism, downward slanted palpebral slits, protruding tongue, kyphoscoliosis, and marked difficulty walking. No parental consanguinity was noted. *FIELD* RF 1. Jammes, J.; Mirhosseini, S. A.; Holmes, L. B.: Syndrome of facial abnormalities, kyphoscoliosis and severe mental retardation. Clin. Genet. 4: 203-209, 1973. *FIELD* CS Neuro: Mental retardation;

Inheritance : Autosomal recessive;

Prefixed ID : 227250;

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01/11/2024


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