Phenotype #0000051220

Individual ID 00065115
Associated disease -
Phenotype details see paper: developmental disability (HP:?), no developmental regression (-HP:0002376), severe hypotonia (HP:0006829), bilateral optical atrophy (HP: ?), severe esotropia (HP:0000565), no abnormal hearing (-HP:0100704), right-sided aortic arch (HP:0012020), 11 ribs (HP:0000878), turricephaly (HP:0000262), hypertrichosis (HP:0000998), bitemporal narrowing (HP:0000341), no arched eyebrows (-HP:0002553), no deep-set eyes (-HP:0000490), high nasal bridge (HP:0000426), anteverted nares (HP:0000463), exaggerated cupid’s bow (HP:0002263), coarse features (HP:0000280), no macroglossia (-HP:0000158)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 00y24m (24 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Jamie Zeegers
Database submission license No license selected
Created by Jamie Zeegers
Date created 2016-05-18 15:03:13 +02:00 (CEST)
Date last edited 2016-05-18 17:23:50 +02:00 (CEST)

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