NGLY1-congenital disorder of deglycosylation

disorder

SNOMED 768846004CUI C3808991

Overview

NGLY1-congenital disorder of deglycosylation 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.

Abnormality of movement

Always present (100%)HP:0100022

Absence of pain sensation

Always present (100%)HP:0007021

Chondroitin sulphate excretion in urine

Always present (100%)HP:0012070

Decreased sensory NCV

Always present (100%)HP:0003448

Delayed CNS myelination

Always present (100%)HP:0002188

Dilated Virchow-Robin spaces

Always present (100%)HP:0012520

Elevated brain choline level by MRS

Always present (100%)HP:0012706

Heparan sulphate excretion in urine

Always present (100%)HP:0002159

High myoinositol in brain by MRS

Always present (100%)HP:0025460

Keratan sulphate excretion in urine

Always present (100%)HP:0012069

Muscular hypotonia

Always present (100%)HP:0001252

Oral pharyngeal dysphagia

Always present (100%)HP:0200136

Polyneuropathy

Always present (100%)HP:0001271

Reduced brain glutamine level by MRS

Always present (100%)HP:0030980

Reduced brain N-acetyl aspartate level by MRS

Always present (100%)HP:0012708

Regression of motor skills

Always present (100%)HP:0033044

Restlessness

Always present (100%)HP:0000711

Scarring or clouding of the cornea of the eye

Always present (100%)HP:0007957

Small feet

Always present (100%)HP:0001773

Cerebral atrophy

Very frequent (80-99%)HP:0002059

Disproportionately small hands

Very frequent (80-99%)HP:0200055

Hyperkinetic movements

Very frequent (80-99%)HP:0002487

Involuntary movements

Very frequent (80-99%)HP:0004305

Nerve damage causing decreased feeling and movement

Very frequent (80-99%)HP:0007141

3-Methylglutaconic aciduria

Frequent (30-79%)HP:0003535

Abnormal liver function tests

Frequent (30-79%)HP:0002910

Abnormal myelination

Frequent (30-79%)HP:0012447

Absent tear secretion

Frequent (30-79%)HP:0000522

Alpha fetoprotein abnormal

Frequent (30-79%)HP:0006254

Birth weight less than 10th percentile

Frequent (30-79%)HP:0001518

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Disorder of glycoprotein metabolism(parent)

Quick Facts

SNOMED CT: 768846004
UMLS CUI: C3808991
Fully Specified Name: N-glycanase 1 congenital disorder of deglycosylation (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.