SRD5A3-CDG - steroid 5 alpha-reductase 3 congenital disorder of glycosylation

disorder

SNOMED 733601006CUI C4317224

Overview

SRD5A3-CDG - steroid 5 alpha-reductase 3 congenital disorder of glycosylation 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.

Muscular hypotonia

Always present (100%)HP:0001252

No development of motor milestones

Always present (100%)HP:0001270

Cognitive delay

Very frequent (80-99%)HP:0001263

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Optic atrophy

Very frequent (80-99%)HP:0000648

Type I transferrin isoform profile

Very frequent (80-99%)HP:0003642

Abnormal brain morphology

Frequent (30-79%)HP:0012443

Ataxia

Frequent (30-79%)HP:0001251

Cataract

Frequent (30-79%)HP:0000518

Cerebellar abnormality

Frequent (30-79%)HP:0001317

Distortion of face

Frequent (30-79%)HP:0001999

Eczema

Frequent (30-79%)HP:0000964

Hypoplastic optic discs

Frequent (30-79%)HP:0007766

Hypotonia, early

Frequent (30-79%)HP:0008947

Ichthyosiform abnormality of the skin

Frequent (30-79%)HP:0008064

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Microcytic anemia

Frequent (30-79%)HP:0001935

Notched pupil

Frequent (30-79%)HP:0000589

Visual loss

Frequent (30-79%)HP:0000572

Xerosis

Frequent (30-79%)HP:0000958

Abnormality of cardiovascular system morphology

Occasional (5-29%)HP:0030680

Abnormality of the cerebellar vermis

Occasional (5-29%)HP:0002334

Abnormality of the sacrum

Occasional (5-29%)HP:0005107

Antithrombin III deficiency

Occasional (5-29%)HP:0001976

Blood coagulation disorder

Occasional (5-29%)HP:0001928

Decreased response to growth hormone stimulation test

Occasional (5-29%)HP:0000824

Degeneration of cerebellum

Occasional (5-29%)HP:0001272

Deglutition disorder

Occasional (5-29%)HP:0002015

Elevated liver enzymes

Occasional (5-29%)HP:0002910

Hunched back

Occasional (5-29%)HP:0002808

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Carbohydrate-deficient glycoprotein syndrome type I(parent)

Quick Facts

SNOMED CT: 733601006
UMLS CUI: C4317224
Fully Specified Name: Congenital disorder of glycosylation type 1q (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.