Phenotype #0000338847

Individual ID	00449673
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	see paper; ..., developmental delay; intellectual disability; neurobehavioral diagnoses; hypotonia and/or muscle weakness; no MRI brain anomalies; other neurologic findings; history of poor height growth; history of poor weight gain; feeding difficulties; dysmorphic craniofacial features (heavy eyebrows with lateral flare, small ears, poor development superior helix, prominent nasal bridge, nasal turbinate reduction, ankyloglossia, thin vermillion); endocrine features; respiratory features; ophthalmologic features; cardiac features; no gastrointestinal features
Inheritance	Isolated (sporadic)
Age/Examination	16y (16 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-04-29 17:32:11 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD