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Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leucoencephalopathy
disorderSNOMED 1237421000CUI C4225332
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
Reduced cerebral white matter volume
Always present (100%)HP:0034295
Feeding difficulties
Very frequent (80-99%)HP:0011968
Global developmental delay, severe
Very frequent (80-99%)HP:0011344
Inability to walk
Very frequent (80-99%)HP:0002540
Mental deficiency
Very frequent (80-99%)HP:0001249
Microcephaly, progressive
Very frequent (80-99%)HP:0000253
Nonverbal
Very frequent (80-99%)HP:0001344
Poor weight gain
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
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
Malformation of face
Frequent (30-79%)HP:0001999
Mental deterioration in childhood
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
Severe demyelination of the white matter
Frequent (30-79%)HP:0007258
Small upper jaw
Frequent (30-79%)HP:0000327
Vomiting
Frequent (30-79%)HP:0002013
Absence of corpus callosum
Occasional (5-29%)HP:0001274
Aggression
Occasional (5-29%)HP:0000718
Appendicular hypertonia
Occasional (5-29%)HP:0002509
Arachnodactyly
Occasional (5-29%)HP:0001166
Ataxia
Occasional (5-29%)HP:0001251
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.