Phenotype #0000059460

Individual ID 00079749
Associated disease -
Phenotype details severe intrauterine growth retardation, deafness, mental retardation, osteoporosis, partial gonadal dysfunction, relatively well-preserved cardiac function; insulin-like growth factor I deficiency; neurology normal; right radial fracture after minor trauma; no skeletal abnormalities; deep-set eyes, flat occiput, micrognathia; broad end phalanges, convex nails, hypermobility interphalangeal joints, restricted mobility elbows
Diagnosis/Initial -
Inheritance Unknown
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Hermine van Duyvenvoorde
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Hermine van Duyvenvoorde
Date created 2008-09-19 15:45:50 +02:00 (CEST)
Date last edited 2009-09-06 10:27:35 +02:00 (CEST)

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