Phenotype #0000187369

Individual ID 00248375
Associated disease NDD
Diagnosis/Initial developmental delay
Diagnosis/Definite CHOPS
Phenotype details see paper; …, Synophrys, upturned nose, long eyelashes, microcephaly, plagiocephaly; birth weight 2,182 g (−2.27 SD), height 43 cm (−3.6 SD), head circumference 32 cm (−1.6 SD); latest weight 41.7 cm (+1.5 SD), height 120 cm (−3.5 SD), head circumferance 50 cm (−2 SD) ; VSD, PDA; Chronic respiratory issues when young‐resolved; No hearing loss; Brachydactyly, short stature treated with growth hormone treatment; no genitourinary reported; no GI reported; Hypothyroidism
Inheritance Isolated (sporadic)
Age/Examination 11y (11 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-07-22 21:27:37 +02:00 (CEST)
Date last edited 2019-07-22 21:47:03 +02:00 (CEST)

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