Global Variome shared LOVD

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Phenotype #0000059470 Individual ID 00079759 Associated disease IGF1RES Phenotype details insulin-like growth factor 1, resistance to; neurology normal; retardation of speech, primary microcephaly, bilateral clinodactyly; pectus excavatum; Broad nasal bridge,thin u.lip,long & smooth philtrum,broad l.lip,bushy eyebrows, receding hairline; Clinodactyly, pectus excavatum, short broad fingers, short distal phalanges Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Patricia Willemse Database submission license No license selected Created by Patricia Willemse Date created 2009-06-16 15:37:08 +02:00 (CEST) Date last edited 2009-07-16 21:09:41 +02:00 (CEST)

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