Lissencephaly syndrome Norman Roberts type

disorder

SNOMED 717977003CUI C0796089

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.

Central hypotonia

Always present (100%)HP:0001252

Cognitive delay

Always present (100%)HP:0001263

Fewer or absent grooves in brain

Always present (100%)HP:0001339

Deformity of face

Very frequent (80-99%)HP:0001999

Four-layered lissencephaly

Very frequent (80-99%)HP:0006818

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Microlissencephaly

Very frequent (80-99%)HP:0045028

Poor school performance

Very frequent (80-99%)HP:0001249

Small skull present at birth

Very frequent (80-99%)HP:0011451

Abnormal calvaria morphology

Frequent (30-79%)HP:0002683

Abnormal muscle tone

Frequent (30-79%)HP:0003808

Epilepsy

Frequent (30-79%)HP:0001250

Feeding difficulties

Frequent (30-79%)HP:0011968

Hypotrophic forehead

Frequent (30-79%)HP:0000350

Increased nasal width

Frequent (30-79%)HP:0000445

Increased width of bridge of nose

Frequent (30-79%)HP:0000431

Intrauterine growth retardation, IUGR

Frequent (30-79%)HP:0001511

Low-set ears

Frequent (30-79%)HP:0000369

Narrow forehead

Frequent (30-79%)HP:0000341

Profound global developmental delay

Frequent (30-79%)HP:0012736

Prominent posterior skull

Frequent (30-79%)HP:0000269

Retromicrognathia

Frequent (30-79%)HP:0000308

Severe psychomotor retardation

Frequent (30-79%)HP:0011344

Sloping forehead

Frequent (30-79%)HP:0000340

Abnormal deposits of calcium in the brain

Occasional (5-29%)HP:0002514

Abnormal retinal morphology

Occasional (5-29%)HP:0000479

Abnormality of neuronal migration

Occasional (5-29%)HP:0002269

Absence of corpus callosum

Occasional (5-29%)HP:0001274

Atria septal defect

Occasional (5-29%)HP:0001631

Atrophic cerebellum

Occasional (5-29%)HP:0001272

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Type 1 lissencephaly(parent)

Congenital abnormality of skull and face bones(parent)

Hereditary disorder of musculoskeletal system(parent)

Hereditary disorder of nervous system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 717977003
UMLS CUI: C0796089
Fully Specified Name: Lissencephaly syndrome Norman Roberts type (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.