Phenotype #0000309971

Individual ID	00418629
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	see paper; ..., birth 42w, pregnancy/delivery uncomplicated; weight 5thd%, height 50th%, OFC <3rd%; motor delay; speech delay; moderate intellectual disability; long hypotonic face, bitemporal narrowing, down-slanting palpebral fissures, ptosis, small ears, retrognathia, high-arched palate, maxillary hypoplasia, long mandible, flat feet; poor feeding; hypotonia; velopharyngeal insufficiency; severe bilateral hip dislocation, joint laxity, nasal voice
Inheritance	Isolated (sporadic)
Age/Examination	18y (18 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-10-03 12:01:45 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD