Early-onset calcifying leucoencephalopathy, skeletal dysplasia

disorder

SNOMED 1222661007CUI C5193117

Overview

Early-onset calcifying leucoencephalopathy, skeletal dysplasia 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.

Abnormal deposits of calcium in the brain

Always present (100%)HP:0002514

Diaphyseal osteosclerosis

Always present (100%)HP:0003034

Dilated cerebral ventricle

Always present (100%)HP:0002119

Flattened vertebral bodies

Always present (100%)HP:0000926

Increased skull ossification

Always present (100%)HP:0004330

Widened metaphyses

Always present (100%)HP:0003016

Cranial sclerosis

Frequent (30-79%)HP:0005464

Focal seizures

Frequent (30-79%)HP:0007359

Hyperintensity of cerebral white matter on MRI

Frequent (30-79%)HP:0030890

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Large cisterna magna

Frequent (30-79%)HP:0002280

Nonsyndromal hydrocephalus

Frequent (30-79%)HP:0000238

Sclerotic vertebral body

Frequent (30-79%)HP:0100861

Absence of corpus callosum

Occasional (5-29%)HP:0001274

Arnold Chiari type I malformation

Occasional (5-29%)HP:0007099

Bell-shaped chest

Occasional (5-29%)HP:0001591

Bulbous nasal tip

Occasional (5-29%)HP:0000414

Cognitive delay

Occasional (5-29%)HP:0001263

Dandy-Walker cyst

Occasional (5-29%)HP:0001305

Erlenmeyer flask femora

Occasional (5-29%)HP:0004975

Gait disturbance

Occasional (5-29%)HP:0001288

Hunched back

Occasional (5-29%)HP:0002808

Inappropriate laughter

Occasional (5-29%)HP:0000748

Increased length of eyelashes

Occasional (5-29%)HP:0000527

Increased reflexes

Occasional (5-29%)HP:0001347

Intellectual impairment

Occasional (5-29%)HP:0100543

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Marble bone disease

Occasional (5-29%)HP:0011002

Muscle rigidity

Occasional (5-29%)HP:0002063

Optic atrophy

Occasional (5-29%)HP:0000648

Related Conditions

Hereditary degenerative disease of central nervous system(parent)

Chronic musculoskeletal disorder(parent)

Cerebral calcification(parent)

Leukoencephalopathy(parent)

Dysplasia with increased bone density(parent)

Cerebral degeneration in childhood(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Chronic brain syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Congenital anomaly of skeletal bone(parent)

Quick Facts

SNOMED CT: 1222661007
UMLS CUI: C5193117
Fully Specified Name: Early-onset calcifying leukoencephalopathy, skeletal dysplasia (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.