ICD-11 classes
16 Diseases of the genitourinary system
Diseases of the urinary system
GB90 — Certain specified disorders of kidney or ureter
GB90.4 — Renal tubular function disorders
GB90.40 — Hypotonia-cystinuria type 1

ICD-11 GB90.40 — Hypotonia-cystinuria type 1

This is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1, nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism due to a homozygous deletion of two contiguous genes on chromosome 2: SLC3A1 and PREP (2p21).

The diagnosis includes nothing.

The diagnosis excludes nothing.

It has no clarifying diagnoses.