Autosomal recessive chorioretinopathy and microcephaly syndrome

disorder

SNOMED 770404004CUI C4749272

Overview

Autosomal recessive chorioretinopathy and microcephaly 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.

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Retinal pigmentary anomaly

Very frequent (80-99%)HP:0007703

Abnormality of neuronal migration

Frequent (30-79%)HP:0002269

Abnormality of the eyelashes

Frequent (30-79%)HP:0000499

Cerebellar hypoplasia/atrophy

Frequent (30-79%)HP:0007360

Cerebral cortex atrophy

Frequent (30-79%)HP:0002120

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Decreased body height

Frequent (30-79%)HP:0004322

Decreased width of the skull

Frequent (30-79%)HP:0004422

Epilepsy

Frequent (30-79%)HP:0001250

Impaired vision

Frequent (30-79%)HP:0000505

Increased width of bridge of nose

Frequent (30-79%)HP:0000431

Intrauterine growth retardation, IUGR

Frequent (30-79%)HP:0001511

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Nostrils anteverted

Frequent (30-79%)HP:0000463

Optic atrophy

Frequent (30-79%)HP:0000648

Poor school performance

Frequent (30-79%)HP:0001249

Prominent ear

Frequent (30-79%)HP:0000411

Sloping forehead

Frequent (30-79%)HP:0000340

Small pointed chin

Frequent (30-79%)HP:0000307

Spasticity and rigidity of muscles

Frequent (30-79%)HP:0001276

Squint

Frequent (30-79%)HP:0000486

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of the visual system(parent)

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

Congenital anomaly of visual system(parent)

Developmental hereditary disorder(parent)

Congenital microcephalus(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 770404004
UMLS CUI: C4749272
Fully Specified Name: Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 22

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.