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)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.