Phenotype #0000001412

Individual ID 00002437
Associated disease MFDGA;MFDM
Diagnosis/Initial -
Diagnosis/Definite MFDGA
Phenotype details IUGR; weight at 11y of +1SD; height at 11y of +3SD; head circumference at 11y<-4SD; facial asymmetry; malar hypoplasia; mandibular hypoplasia; dysplastic external ears; auditory canal stresia/stenosis; moderate delayed psycho/motor development; ASD; genital anomalies; tooth agenesis; no seizures
Inheritance Unknown
Age/Examination -
Age/Onset -
Phenotype/Onset -
Age/Diagnosis -
Birth_Details -
Height-Weight-OFC -
Protein -
Owner name Dennis E. Bulman
Database submission license No license selected
Created by Dennis E. Bulman
Date created 2013-09-05 19:49:47 +02:00 (CEST)
Date last edited 2025-03-08 16:47:50 +01:00 (CET)

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.