Phenotype #0000054371

Individual ID	00074616
Associated disease	ID
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Isolated (sporadic)
Phenotype details	Sensorineural hearing impairment (HP:0000407), Astigmatism (HP:0000483), no seizures (-HP:0001250), Short stature (HP:0004322), Microcephaly (HP:0000252), Brachycephaly (HP:0000248), Hypoplasia of midface (HP:0011800), Strabismus (HP:0000486), Optic nerve hypoplasia (HP:0000609), Depressed nasal bridge (HP:0005280), Broad nasal tip (HP:0000455), Short philtrum (HP:0000322), Thin vermilion border (HP:0000233), Downturned corners of mouth (HP:0002714), Cleft palate (HP:0000175), High, narrow palate (HP:0002705), Pointed chin (HP:0000307), Brachydactyly syndrome (HP:0001156), Muscular hypotonia (HP:0001252), Dandy-Walker malformation (HP:0001305), Patent foramen ovale (HP:0001655), Duplicated collecting system (HP:0000081), Global developmental delay (HP:0001263), Intellectual disability (HP:0001249); intellectual disability (HP:0001249); global developmental delay (HP:0001263)
Age/Examination	04y07m (4 years, 7 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Pieter Klap
Database submission license	No license selected
Created by	Pieter Klap
Date created	2016-07-11 11:46:32 +02:00 (CEST)
Date last edited	2020-05-12 12:33:06 +02:00 (CEST)

Global Variome shared LOVD