Phenotype #0000254862

Individual ID	00359590
Associated disease	-
Phenotype details	HP:0000842 Hyperinsulinemia HP:0000369 Low-set ears HP:0001525 Severe failure to thrive HP:0001511 Intrauterine growth retardation HP:0000956 Acanthosis nigricans HP:0004428 Elfin facies HP:0008850 Severe postnatal growth retardation HP:0003162 Fasting hypoglycemia HP:0003758 Reduced subcutaneous adipose tissue HP:0000121 Nephrocalcinosis HP:0011344 Severe global developmental delay
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Guorui Hu
Database submission license	No license selected
Created by	Guorui Hu
Date created	2021-03-28 15:29:25 +02:00 (CEST)
Date last edited	2021-03-29 09:35:39 +02:00 (CEST)

Global Variome shared LOVD