HYPOPARATHYROIDISM, X-LINKED; HYPX

Question 1

What is  HYPOPARATHYROIDISM, X-LINKED; HYPX?

Accepted Answer

rare
X-linked

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hypoparathyreoidismus, familiärer isolierter; X-linked; HYPX

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 307700

Disease	HYPOPARATHYROIDISM, X-LINKED; HYPX
Synonym	PARATHYROID GLANDS, AGENESIS OF
OMIM	307700 OMIM = Online Mendelian Inheritance of Men
Orphanet	2238
Gene locus	Xq26-q27
ICD	E20.8
Summary	rare X-linked
Laboratory findings	Calcium dec (serum) Parathyroid hormone (PTH) dec (serum) Phosphate inc (serum)
Symptoms	onset, neonatal seizures tetany