Phenotype #0000001565

Individual ID 00002602
Associated disease MFDGA;MFDM
Diagnosis/Initial -
Diagnosis/Definite MFDGA
Phenotype details polyhydramnios; birth height 51cm/-0.8SD; birth OFC 34cm/-0.6SD; height at 21y 158cm/-1.5SD; weight at 21y 63kg/0.5SD; OFC at 21y 51cm/-3.7SD; ID with IQ 75; walking at 16m; first word at 16m; upslanting palpebral fissures; microtia with squared earlobe; bilateral conductive hearing loss; reduced mouth opening; micrognathia; esophageal atresia; ASD; scoliosis; bilateral cleft of zygomatic bone; clinodactyly V; no seizures
Inheritance Familial, autosomal dominant
Age/Examination -
Age/Onset -
Phenotype/Onset -
Age/Diagnosis -
Birth_Details 41w; weight 3010 (-1.4)
Height-Weight-OFC -
Protein -
Owner name Dennis E. Bulman
Database submission license No license selected
Created by Dennis E. Bulman
Date created 2013-09-10 09:39:58 +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.