Phenotype #0000058640

Individual ID	00078882
Associated disease	ID
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Isolated (sporadic)
Phenotype details	microcephaly (HP:0000252), downslanting palpebral fissures (HP:0000494), no epicanthus (-HP:0000286), strabismus (HP:0000486), blue sclera in infancy (HP:0000592), flat midface (HP:0040199), thin upper lip (HP:0000219), everted lower lip (HP:0000232), no abnormality of the nose (-HP:0000366), no mircoretrognathia (-HP:0000308), small mouth (HP:0000160), high palate (HP:0000218), pointed chin (HP:0000307), bilateral microtia (HP:0008551), asymmetric low-set ears (HP:0000369), with overfolded and cupped helix (HP:0000396), attached earlobes (HP:?), joint hypermobility (HP:0001382), no short stature (-HP:0004322), no gait abnormalities (-HP:0001288), no autism spectrum disorder (-HP:0000729), repetitive behaviour (HP:0000733), recurrent hand flapping (HP:0100023), biting (HP:?), 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 22:07:54 +02:00 (CEST)
Date last edited	2020-05-12 12:33:06 +02:00 (CEST)