Leukoencephalopathy with metaphyseal chondrodysplasia syndrome

disorder

SNOMED 719405005CUI C4304743

Overview

Leukoencephalopathy with metaphyseal chondrodysplasia 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.

Leukoencephalopathy

Very frequent (80-99%)HP:0002352

Metaphyseal chondrodysplasia

Very frequent (80-99%)HP:0005871

Abnormal astrocyte morphology

Frequent (30-79%)HP:0100707

Abnormal brainstem MRI signal intensity

Frequent (30-79%)HP:0012747

Decreased bone mineral density Z score

Frequent (30-79%)HP:0004349

Enlargement of the wrists

Frequent (30-79%)HP:0003020

Extensor plantar responses

Frequent (30-79%)HP:0003487

Gait disturbance

Frequent (30-79%)HP:0001288

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Increased reflexes

Frequent (30-79%)HP:0001347

Large knee

Frequent (30-79%)HP:0030866

Low intelligence

Frequent (30-79%)HP:0001249

optic nerve abnormalities

Frequent (30-79%)HP:0000587

Poor vision

Frequent (30-79%)HP:0000505

Pyramidal tract disease

Frequent (30-79%)HP:0002062

Spastic paraplegia

Frequent (30-79%)HP:0001258

Supratentorial atrophy

Frequent (30-79%)HP:0002059

Tremor

Frequent (30-79%)HP:0001337

Walking on tiptoes

Frequent (30-79%)HP:0030051

Concave bridge of nose

Occasional (5-29%)HP:0005280

Decreased projection of midface

Occasional (5-29%)HP:0011800

Horizontal nystagmus

Occasional (5-29%)HP:0000666

Nostrils anteverted

Occasional (5-29%)HP:0000463

Related Conditions

Leukoencephalopathy(parent)

Metaphyseal chondrodysplasia(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Hereditary degenerative disease of central nervous system(parent)

X-linked recessive hereditary disease(parent)

Cerebral degeneration(parent)

Quick Facts

SNOMED CT: 719405005
UMLS CUI: C4304743
Fully Specified Name: Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 23

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.