Phenotype #0000223295

Individual ID 00295671
Associated disease MFDGA;MFDM
Diagnosis/Initial -
Diagnosis/Definite MFDGA
Phenotype details born with normal birth parameters, uneventful pregnancy; micrognathia, anteverted ears, bulbous nasal tip, epicanthus; feeding difficulties, developed rapidly progressive postnatal microcephaly; 12m-head circumference -4 SD, premature closure metopic ridge; walk-21m, language delayed, attended school with special needs; normal hearing, MRI brain normal
Inheritance Isolated (sporadic)
Age/Examination -
Age/Onset -
Phenotype/Onset -
Age/Diagnosis -
Birth_Details -
Height-Weight-OFC -
Protein -
Owner name Huw Thomas
Database submission license No license selected
Created by Johan den Dunnen
Date created 2020-03-28 10:41:14 +01:00 (CET)
Date last edited 2025-03-08 16:45:03 +01:00 (CET)

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