Phenotype #0000034720

Individual ID	00047295
Associated disease	ID
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Isolated (sporadic)
Phenotype details	muscular hypotonia, walk(support)-1y8m, friendly behaviour, orofacial hypotonia, long face, epicanthic folds, upslanting palpebral fissures, short philtrum, open-mouth (salvation), thin/tented upper lip, everted lower lip, high arched palate, pointed chin, low set ears, no strabismus, hyperopia, no joint hypermobility, no neanatal feeding difficulties, no umbilical hernia, decreased pain sensation, no recurrent upper air tract infections; 3y-brain-MRI normal; birth 40w; weight 4100/01.5; length 53/0.6; OFC (4w) 35/-0.4; moderate intellectual disability (HP:0002342); global developmental delay (HP:0001263); speech delay (HP:0000750); dysarthria (HP:0001260)
Age/Examination	08y (8 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 16:08:21 +02:00 (CEST)
Date last edited	2020-05-12 12:33:06 +02:00 (CEST)

Global Variome shared LOVD