Phenotype #0000001408

Individual ID 00002433
Associated disease MFDGA;MFDM
Diagnosis/Initial -
Diagnosis/Definite MFDGA
Phenotype details birth height<-2SD; birth head circumference of -3SD; weight at 10y of -2SD; height at 10y of -1SD; head circimference at 10y of -4SD; malar hypoplasia; mandibular hypoplasia; dysplastic ears; auditory canal atresia/stenosis; mixed hearing loss; mild delayed psycho/motor development; oesophageal atresia type C; cryptochidism; lacrymal duct stenosis;; seizures
Inheritance Isolated (sporadic)
Age/Examination -
Age/Onset -
Phenotype/Onset -
Age/Diagnosis -
Birth_Details 39w; weight (-1)
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 17:43:58 +02:00 (CEST)
Date last edited 2025-03-08 16:47:04 +01:00 (CET)

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