Phenotype #0000051217

Individual ID 00065111
Associated disease -
Phenotype details see paper: developmental disability (HP:?), developmental regression (HP:0002376), severe hypotonia (HP:0006829), cortical visual impairment (HP:0100704), no abnormal hearing (-HP:0100704), osteoporosis
(three femur fractures) (HP:0000939), mild virilization of external genitalia as a neonate (subsequently normalized) (HP:?), turricephaly (HP:0000262), Bitemporal narrowing (HP:0000341), arched eyebrows (HP:0002553), deep-set eyes (HP:0000490), high nasal bridge (HP:0000426), anteverted nares (HP:0000463), exaggerated cupid’s bow (HP:0002263), no coarse features (-HP:0000280), no macroglossia (-HP:0000158), gingival hyperplasia (HP:0000212)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 04y (4 years)
Age/Diagnosis -
Age/Onset 00y25m
Phenotype/Onset -
Protein -
Owner name Jamie Zeegers
Database submission license No license selected
Created by Jamie Zeegers
Date created 2016-05-18 14:28:21 +02:00 (CEST)
Date last edited 2016-05-18 17:32:05 +02:00 (CEST)

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