Phenotype #0000106788

Individual ID	00134039
Associated disease	HVDAS;MRD28
Phenotype details	hypotonia, recurrent respiratory tract infections, pervasive developmental disorder, intellectual disability, psychomotor delay: walk at 2 years, language delay, autistic traits, chronic constipation, facial dysmorphism: prominent forehead, high anterior hairline, hypertelorism, strabismus, wide palpebral fissures, small ears, broad nasal bridge, short nose, long/smooth philtrum, hyperlaxity of joints, ataxic gait.; sleep disturbance
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	03y10m (3 years, 10 months)
Age/Diagnosis	03y10m
Age/Onset	-
Phenotype/Onset	-
Birth_Details	-
Birth/Weight	15,5 kg
MotorSkills	-
Speech	severe
Hypotonia	-
Protein	-
Intellectual_dis	moderate
Pupil	hypertelorism
Owner name	Minh Tuan Huynh
Database submission license	No license selected
Created by	Minh Tuan Huynh
Date created	2017-11-18 18:45:23 +01:00 (CET)
Date last edited	2020-05-05 18:59:34 +02:00 (CEST)

Global Variome shared LOVD