Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome

disorder

SNOMED 1295488006CUI C3280799

Overview

Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Cryptorchidism

Always present (100%)HP:0000028

Decreased volume of lip vermillion

Always present (100%)HP:0000233

Decreased width of nasal dorsum

Always present (100%)HP:0000418

Deep set eye

Always present (100%)HP:0000490

Dermal translucency

Always present (100%)HP:0010648

Excessive wrinkled skin

Always present (100%)HP:0007392

Fallen arches

Always present (100%)HP:0001763

Fine hair

Always present (100%)HP:0002213

Fixed flexion at the elbow joint

Always present (100%)HP:0002987

Flexion contractures

Always present (100%)HP:0001371

Generalized elastolysis

Always present (100%)HP:0000973

Glaucoma

Always present (100%)HP:0000501

Grey sclerae

Always present (100%)HP:0000592

Hypotrichosis

Always present (100%)HP:0008070

Increased distance between eyes

Always present (100%)HP:0000316

Infantile glaucoma

Always present (100%)HP:0001087

Infantile hypertrophic pyloric stenosis

Always present (100%)HP:0002021

Inguinal hernia

Always present (100%)HP:0000023

Large, late-closing fontanelle

Always present (100%)HP:0000239

Narrow eyelid opening

Always present (100%)HP:0045025

Osteoporosis

Always present (100%)HP:0000939

Posteriorly angulated ears

Always present (100%)HP:0000358

Prominent ear helix

Always present (100%)HP:0009904

Prominent veins

Always present (100%)HP:0001015

Protruding forehead

Always present (100%)HP:0011220

Small nasal alae

Always present (100%)HP:0000430

Speech and language difficulties

Always present (100%)HP:0000750

Thin skin

Always present (100%)HP:0000963

Mental-retardation

Very frequent (80-99%)HP:0001249

Osteopenia

Very frequent (80-99%)HP:0000938

Related Conditions

Cutis laxa-corneal clouding-oligophrenia syndrome(parent)

Arthropathy associated with another disorder(parent)

Quick Facts

SNOMED CT: 1295488006
UMLS CUI: C3280799
Fully Specified Name: Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.