Phenotype #0000058639

Individual ID	00078881
Associated disease	ID
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Isolated (sporadic)
Phenotype details	microcephaly (HP:0000252), no downslanting palpebral fissures (-HP:0000494), no epicanthus (-HP:0000286), strabismus (HP:0000486), no blue sclera in infancy (-HP:0000592), flat midface (HP:0040199), thin upper lip (HP:0000219), no everted lower lip (HP:0000232), anteverted nose (HP:0000463), full tip nose (HP:?), no mircoretrognathia (-HP:0000308), unilateral (left) flat helix, prominent anti-crus (HP:?), joint hypermobility (HP:0001382), no short stature (-HP:0004322), no gait abnormalities (-HP:0001288), fetal pads (HP:?), bilateral coxa valga (HP:0010665), valgus foot deformity (HP:0008081), no autism spectrum disorder (-HP:0000729), repetitive behaviour (HP:0000733), sensory abnormality (HP:0011730), self-injurious behaviour (HP:0100716), sleep disturbance (HP:0002360); moderate intellectual disability (HP:0002342)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Jamie Zeegers
Database submission license	No license selected
Created by	Jamie Zeegers
Date created	2016-07-26 21:52:02 +02:00 (CEST)
Date last edited	2020-05-12 12:33:06 +02:00 (CEST)

Global Variome shared LOVD