NK6 homeobox 2-related autosomal recessive hypomyelinating leucodystrophy

disorder

SNOMED 1217379007CUI C4479653

Overview

NK6 homeobox 2-related autosomal recessive hypomyelinating leucodystrophy 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.

Central hypotonia

Always present (100%)HP:0001252

Involuntary muscle stiffness, contraction, or spasm

Always present (100%)HP:0001257

No development of motor milestones

Always present (100%)HP:0001270

Upgaze palsy

Always present (100%)HP:0025331

Ataxia

Very frequent (80-99%)HP:0001251

Corticospinal signs

Very frequent (80-99%)HP:0007256

Hypometric saccades

Very frequent (80-99%)HP:0000571

Involuntary, rapid, rhythmic eye movements

Very frequent (80-99%)HP:0000639

Joint contracture

Very frequent (80-99%)HP:0034392

Abnormal eye movements, paroxysmal

Frequent (30-79%)HP:0007704

Brain degeneration

Frequent (30-79%)HP:0012444

CNS hypomyelination

Frequent (30-79%)HP:0003429

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Dystonic movements

Frequent (30-79%)HP:0001332

Gait disturbance

Frequent (30-79%)HP:0001288

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

Head titubation

Frequent (30-79%)HP:0002599

Hyperintensity of cerebral white matter on MRI

Frequent (30-79%)HP:0030890

Increased reflexes

Frequent (30-79%)HP:0001347

Instability or lack of coordination of central trunk muscles

Frequent (30-79%)HP:0002078

Leukodystrophy

Frequent (30-79%)HP:0002415

Limb dystonia

Frequent (30-79%)HP:0002451

Loss of ambulation

Frequent (30-79%)HP:0002505

Mental and motor retardation

Frequent (30-79%)HP:0001263

Mental deterioration in childhood

Frequent (30-79%)HP:0002376

Spasticity, progressive

Frequent (30-79%)HP:0002191

Thinning of the corpus callosum

Frequent (30-79%)HP:0033725

Torticollis

Frequent (30-79%)HP:0000473

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Degeneration of cerebellum

Occasional (5-29%)HP:0001272

Related Conditions

Hereditary degenerative disease of central nervous system(parent)

Chronic nervous system disease(parent)

Leucodystrophy(parent)

Spastic tetraplegia(parent)

Auditory system hereditary disorder(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of the visual system(parent)

Hereditary ataxia(parent)

Recessive hereditary disorder (autosomal)(parent)

Genetic intellectual disability(parent)

Nerve palsy(parent)

Quick Facts

SNOMED CT: 1217379007
UMLS CUI: C4479653
Fully Specified Name: NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (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.