Phenotype #0000000800

Individual ID 00001634
Associated disease MFDGA;MFDM
Diagnosis/Initial -
Diagnosis/Definite MFDGA
Phenotype details Paternal age of 26; Malar hypoplasia; Micrognathia; Downslanting of obliquity of palpebrae; Microtia; Unilateral preauricular tags; Sensorineural hearing loss; Bifid uvula; Need for neonatal resuscitation; Global developmental delay; Metopic ridge; Congenital heart defect(ASD); Proximally placed thumb; Crypotorchidism and small scrotum; no seizures
Inheritance Isolated (sporadic)
Age/Examination -
Age/Onset -
Phenotype/Onset -
Age/Diagnosis -
Birth_Details 39w; weight 2400 (-2.5)
Height-Weight-OFC 71cm (-3); 8kg (-3.5); 43cm (-3)
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2013-07-28 14:45:00 +02:00 (CEST)
Date last edited 2025-03-08 16:47:50 +01:00 (CET)

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