Phospholipase A2 activating protein-associated neurodevelopmental disorder

disorder

SNOMED 1217367007CUI C4479631

Overview

Phospholipase A2 activating protein-associated neurodevelopmental disorder 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.

Corticospinal signs

Always present (100%)HP:0007256

Delayed fine motor development

Always present (100%)HP:0010862

Delayed gross motor development

Always present (100%)HP:0002194

Head stopped growing

Always present (100%)HP:0004485

Hypertonia

Always present (100%)HP:0001276

Increased amniotic fluid index

Always present (100%)HP:0001561

Intellectual impairment

Always present (100%)HP:0100543

Mental retardation, severe

Always present (100%)HP:0010864

Microcephaly, progressive

Always present (100%)HP:0000253

No speech development

Always present (100%)HP:0001344

Periventricular cysts

Always present (100%)HP:0007109

Progressive leukoencephalopathy

Always present (100%)HP:0006980

Thickened facial skin with coarse facial features

Always present (100%)HP:0000280

Wide cavum septum pellucidum

Always present (100%)HP:0034964

Cerebral cortex atrophy

Very frequent (80-99%)HP:0002120

Hyperhidrosis of palms and soles

Very frequent (80-99%)HP:0007410

Small joint hypermobilty

Very frequent (80-99%)HP:0430046

Thinning of the corpus callosum

Very frequent (80-99%)HP:0033725

Abnormal cortical gyration

Frequent (30-79%)HP:0002536

Apnea

Frequent (30-79%)HP:0002104

Appendicular hypertonia

Frequent (30-79%)HP:0002509

Bulbar palsies

Frequent (30-79%)HP:0001283

Cerebellar cortex degeneration

Frequent (30-79%)HP:0008278

Cerebral white matter atrophy

Frequent (30-79%)HP:0012762

Contractures of the large joints

Frequent (30-79%)HP:0005781

Decreased projection of mandible

Frequent (30-79%)HP:0000347

Decreased size of cranium

Frequent (30-79%)HP:0000252

Delayed CNS myelination

Frequent (30-79%)HP:0002188

Delayed myelination

Frequent (30-79%)HP:0012448

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Related Conditions

Global developmental delay(parent)

Leukoencephalopathy(parent)

Inherited optic neuropathy(parent)

Developmental hereditary disorder(parent)

Neurodevelopmental disorder(parent)

Chronic brain syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1217367007
UMLS CUI: C4479631
Fully Specified Name: Phospholipase A2 activating protein-associated neurodevelopmental disorder (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.