Solute carrier family 39 member 8 congenital disorder of glycosylation

disorder

SNOMED 1187171005CUI C4225234

Overview

Solute carrier family 39 member 8 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.

Delayed ability to sit

Always present (100%)HP:0025336

Muscular hypotonia

Always present (100%)HP:0001252

Nonprogressive mental retardation

Always present (100%)HP:0001249

Vermian atrophy

Always present (100%)HP:0006855

Abnormal zinc metabolism

Very frequent (80-99%)HP:0008277

Hypomanganesemia

Very frequent (80-99%)HP:0032098

IQ less than 20

Very frequent (80-99%)HP:0002187

Profound global developmental delay

Very frequent (80-99%)HP:0012736

Severe muscular hypotonia

Very frequent (80-99%)HP:0006829

Type II transferrin isoform profile

Very frequent (80-99%)HP:0012301

Cerebral cortex atrophy

Frequent (30-79%)HP:0002120

Decreased body height

Frequent (30-79%)HP:0004322

Delay in head control

Frequent (30-79%)HP:0002421

Elevated brain lactate level by MRS

Frequent (30-79%)HP:0012707

Epilepsy

Frequent (30-79%)HP:0001250

Failure to thrive in first year of life

Frequent (30-79%)HP:0001531

Inability to walk

Frequent (30-79%)HP:0002540

Infratentorial atrophy

Frequent (30-79%)HP:0001272

Squint

Frequent (30-79%)HP:0000486

Visual fixation instability

Frequent (30-79%)HP:0025405

Abnormal curving of the cornea or lens of the eye

Occasional (5-29%)HP:0000483

Abnormality of the liver

Occasional (5-29%)HP:0001392

Craniosyostosis

Occasional (5-29%)HP:0001363

Decreased activity of mitochondrial complex II

Occasional (5-29%)HP:0008314

Decreased activity of mitochondrial complex IV

Occasional (5-29%)HP:0008347

Decreased activity of the pyruvate dehydrogenase complex

Occasional (5-29%)HP:0002928

Decreased mitochondrial complex III activity in liver tissue

Occasional (5-29%)HP:0006558

Difficulty speaking

Occasional (5-29%)HP:0002465

Dilated cerebral ventricle

Occasional (5-29%)HP:0002119

Dwarfism, short-limbed

Occasional (5-29%)HP:0008873

Related Conditions

N-Acetylglucosaminyl transferase II deficiency(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1187171005
UMLS CUI: C4225234
Fully Specified Name: Solute carrier family 39 member 8 congenital disorder of glycosylation (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.