Phenotype #0000061340

Individual ID	00081316
Associated disease	PHP1A
Phenotype details	born after ICSI; developed several problems after born: (necrotizing enterocolitis, aspiration pneumonia, hypothyroidism); frontal bossing; depressed nasal bridge; on the neck: regional abnormality of skin, hyperpigmented macules, dermal atrophy; palpable subcutaneous calcifications in the neck and on the helix of right ear; developmental delay; inspiratory stridor; hoarse voice with vocal cord paralysis; hypotonic seizures (3y); biochemical test: elevated serum PTH (64,8 pmol/L; N=1,3-6,8); serum calcium 1,17 mmol/L (N=2,2–2,6), urine calcium 0,0 mmol in 24 h (N= <7,5), serum phosphate 3,89 mmol/L (N= 0,8–2,0), urine phosphate 1,0 mmol in 24 h (N= 13–40).; round face (HP:0000311); truncal obesity (HP:0001956); brachydactyly (HP:000156); ectopic ossification (HP:0011986);
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	02y (2 years)
Age/Diagnosis	03y
Age/Onset	02y
Phenotype/Onset	-
Protein	-
Owner name	Arrate Pereda
Database submission license	No license selected
Created by	Arrate Pereda
Date created	2016-10-19 13:07:49 +02:00 (CEST)
Date last edited	2021-10-19 15:59:52 +02:00 (CEST)