Phenotype #0000034719

Individual ID	00047294
Associated disease	ID
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Unknown
Phenotype details	muscular hypotonia, walk(support)-1y6m, friendly behaviour, orofacial hypotonia, no long face, epicanthic folds, no upslanting palpebral fissures, short philtrum, open-mouth (salvation), thin/tented upper lip, everted lower lip, high arched palate, no pointed chin, no low set ears, no strabismus, hyperopia, no joint hypermobility, neanatal feeding difficulties, no umbilical hernia, decreased pain sensation, recurrent upper air tract infections; 3m-brain-MRI normal; birth 37w; weight 3105/0.3; length 50/1.0; OFC 29.5/-3.1; moderate intellectual disability (HP:0002342); global developmental delay (HP:0001263); speech delay (HP:0000750); dysarthria (HP:0001260)
Age/Examination	03y (3 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Davor Lessel
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2015-08-28 16:06:17 +02:00 (CEST)
Date last edited	2020-05-12 12:33:06 +02:00 (CEST)

Global Variome shared LOVD