Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome

disorder

SNOMED 1172900005CUI C5567650

Overview

Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome 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.

Hypoplasia of corpus callosum

Always present (100%)HP:0002079

Retarded growth

Always present (100%)HP:0001510

Cortical blindness

Very frequent (80-99%)HP:0100704

Decreased size of cranium

Very frequent (80-99%)HP:0000252

IQ less than 20

Very frequent (80-99%)HP:0002187

Microcephaly, progressive

Very frequent (80-99%)HP:0000253

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Seizures

Very frequent (80-99%)HP:0001250

Decreased body height

Frequent (30-79%)HP:0004322

Decreased body weight

Frequent (30-79%)HP:0004325

Predisposition to infections

Frequent (30-79%)HP:0002719

B-cell lymphoma

Occasional (5-29%)HP:0012191

Brain degeneration

Occasional (5-29%)HP:0012444

Bronchiectasis

Occasional (5-29%)HP:0002110

Cancer of lymphatic system

Occasional (5-29%)HP:0002665

Combined immunodeficiency

Occasional (5-29%)HP:0005387

Decreased proportion of CD4-positive T cells

Occasional (5-29%)HP:0032218

Delayed puberty

Occasional (5-29%)HP:0000823

Failure to thrive in first year of life

Occasional (5-29%)HP:0001531

Metopic suture craniosynostosis

Occasional (5-29%)HP:0011330

Muscle degeneration

Occasional (5-29%)HP:0003202

Muscular hypotonia

Occasional (5-29%)HP:0001252

Optic atrophy

Occasional (5-29%)HP:0000648

Optic chiasm hypoplasia

Occasional (5-29%)HP:0034311

Thinning of the corpus callosum

Occasional (5-29%)HP:0033725

Problems speaking

HP:0002465

Related Conditions

Progressive microcephaly, seizures, cortical blindness, developmental delay with combined immunodeficiency due to DIAPH1 mutation(child)

Hereditary disorder of nervous system(parent)

Hereditary disorder of the visual system(parent)

Cortical blindness(parent)

Chronic brain syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Global developmental delay(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 1172900005
UMLS CUI: C5567650
Fully Specified Name: Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 26

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.