Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000068433 Individual ID 00081319 Associated disease PHP1A Phenotype details secondary amenorrhea; short stature (HP:0004322); intellectual disability (HP:0001249); normal onset puberty; round face (HP:0000311); obesity (HP:0001513); brachydactyly (HP:000156); ectopic ossification (HP:0011986); no hypercalcemia (-HP:0003072); high follicle stimulating hormone (HP:0008232), growth hormone deficiency (HP:0000824),high luteinizing hormone (HP:0011969), high circulating parathyroid hormone (HP:0003165), thyroid-stimulating hormone excess (HP:0002925) Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 18y01m (18 years, 1 month) Age/Diagnosis - Age/Onset 02y06m Phenotype/Onset - Protein - Owner name Arrate Pereda Database submission license No license selected Created by Arrate Pereda Date created 2016-11-28 11:23:04 +01:00 (CET) Date last edited 2021-10-19 15:59:52 +02:00 (CEST)

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