Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leucoencephalopathy

disorder

SNOMED 1237421000CUI C4225332

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Mental and motor retardation

Always present (100%)HP:0001263

Postnatal microcephaly

Always present (100%)HP:0005484

White matter loss

Always present (100%)HP:0034295

Feeding difficulties

Very frequent (80-99%)HP:0011968

Inability to walk

Very frequent (80-99%)HP:0002540

Low intelligence

Very frequent (80-99%)HP:0001249

Microcephaly, progressive

Very frequent (80-99%)HP:0000253

Nonverbal

Very frequent (80-99%)HP:0001344

Severe psychomotor retardation

Very frequent (80-99%)HP:0011344

Undergrowth

Very frequent (80-99%)HP:0001508

Bulbous nasal tip

Frequent (30-79%)HP:0000414

Central hypotonia

Frequent (30-79%)HP:0001252

CNS hypomyelination

Frequent (30-79%)HP:0003429

Dysmorphic facies

Frequent (30-79%)HP:0001999

Epilepsy

Frequent (30-79%)HP:0001250

Hyperintensity of cerebral white matter on MRI

Frequent (30-79%)HP:0030890

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Loss of milestones

Frequent (30-79%)HP:0002376

Muscle wasting

Frequent (30-79%)HP:0003202

Prominent eyelashes

Frequent (30-79%)HP:0011231

Protruding ear

Frequent (30-79%)HP:0000411

Retrusion of upper jaw bones

Frequent (30-79%)HP:0000327

Severe demyelination of the white matter

Frequent (30-79%)HP:0007258

Vomiting

Frequent (30-79%)HP:0002013

Absence of corpus callosum

Occasional (5-29%)HP:0001274

Appendicular hypertonia

Occasional (5-29%)HP:0002509

Arachnodactyly

Occasional (5-29%)HP:0001166

Ataxia

Occasional (5-29%)HP:0001251

Broad big toe

Occasional (5-29%)HP:0010055

Related Conditions

Leukoencephalopathy(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of nervous system(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Chronic brain syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1237421000
UMLS CUI: C4225332
Fully Specified Name: Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy (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.