Phenotype #0000051858

Individual ID	00072152
Associated disease	CSCSC1
Phenotype details	decreased head circumference present at birth (HP:0011451), reduced head circumference – current (HP:0000252), creases limbs; disappeared around age 4 years (HP:?), no cleft palate (-HP:0000175), flat face (HP:0012368), low set anterior hairline (HP:0000294), microphthalmia (HP:0000568), bilateral epicanthic folds (HP:0000286), small downslanting palpebral fissures (HP:0000494), ptosis (HP:0000508), synophris (HP:0000664), broad nasal bridge (HP:0000431), dysplastic small (HP:0000377), low-set and posteriorly rotated ears (HP:0000368) with overfolded helices (HP:0000396), upturned ear lobes (HP:0009909); microstomia (HP:0000160)with thin upper lip (HP:0000219), small chin (HP:0000331), short hands (HP:0004279), tapering fingers (HP:0001182), intellectual disability, mild (HP:0001256) to normal
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	08y09m (8 years, 9 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 11:12:20 +02:00 (CEST)
Date last edited	2017-03-24 20:31:37 +01:00 (CET)