Phenotype #0000051863

Individual ID	00072157
Associated disease	CSCSC1
Phenotype details	reduced head circumference – current (HP:0000252), high palate (HP:0000218), no cleft palate (-HP:0000175), creases limbs (HP:?), elongated face (HP:0000300), flat face (HP:0012368), hypertelorism (HP:0000316), upslanting short palpebral fissures (HP:0000582), epicanthus (HP:0000286), periorbital fullness (HP:0000629), long eyelashes (HP:0000527), blepharophimosis (HP:0000581), broad nasal bridge (HP:0000431), depressed nasal bridge (HP:0005280), malformed ears (HP:0000377 ), lowset ears (HP:0000369), microstomia (HP:0000160), down-turned corners of the mouth (HP:0002714), wide-spaced nipples (HP:0006610), second and third toe syndactyly (HP:0004691), mild developmental delay (HP:0011342), particularly speech delay (HP:0000750), hypoplasia of corpus callosum (HP:0002079), Dandy-Walker malformation (HP:0001305)
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	00y18m (18 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Jamie Zeegers
Database submission license	No license selected
Created by	Jamie Zeegers
Date created	2016-05-30 11:30:11 +02:00 (CEST)
Date last edited	2017-03-24 20:17:15 +01:00 (CET)