Phenotype #0000355407

Individual ID	00470258
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	MRD21
Inheritance	Isolated (sporadic)
Phenotype details	see paper; ..., birth-26w due to fetal distress, intra-uterine growth retardation; neonatal jaundice, recurrent chest infections, pulmonary hemorrhage, neonatal anemia, septicemia, chronic lung disease, gastroesophageal reflux disease, retinopathy of prematurity; 2y-failure to thrive, dysmorphic features (microbrachycephaly, narrow forehead, mild synophrys, highly arched/thick eyebrows, long eye lashes, deep-seated eyes, microcornea, esotropia, midface retrusion, short nose, columella and philtrum, broad nasal tip, wide anteverted nares, cube shaped lips, prominent incisors, large cupped ears, attached ear lobes), developmental delay; 3y6m-developmentaldelay, speech delay (babble)
Age/Examination	-
Age/Diagnosis	03y06m
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-11-29 16:37:32 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD