Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome

disorder

SNOMED 1269233006CUI C5780029

Overview

Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects 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.

Abnormality of hippocampus morphology

Very frequent (80-99%)HP:0025100

Abnormality of the anterior commissure

Very frequent (80-99%)HP:0030301

Cerebellar hypoplasia/atrophy

Very frequent (80-99%)HP:0007360

Cerebral pachygyria

Very frequent (80-99%)HP:0001302

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Neurodevelopmental delay

Very frequent (80-99%)HP:0012758

Truncal hypotonia

Very frequent (80-99%)HP:0008936

Deglutition disorder

Frequent (30-79%)HP:0002015

Involuntary movements

Frequent (30-79%)HP:0004305

Squint

Frequent (30-79%)HP:0000486

Thinning of the corpus callosum

Frequent (30-79%)HP:0033725

CVI

Occasional (5-29%)HP:0100704

Dislocated femoral heads

Occasional (5-29%)HP:0002827

Double ring sign

Occasional (5-29%)HP:0000609

Infantile spasms

Occasional (5-29%)HP:0012469

Involuntary muscle stiffness, contraction, or spasm

Occasional (5-29%)HP:0001257

Lack of bladder control due to nervous system injury

Occasional (5-29%)HP:0000011

Myoclonic seizure

Occasional (5-29%)HP:0032794

Stimming

Occasional (5-29%)HP:0000733

Unbalanced face

Occasional (5-29%)HP:0000324

Related Conditions

Autosomal dominant hereditary disorder(parent)

Global developmental delay(parent)

Macrogyria(parent)

Type 1 lissencephaly(parent)

Dysgenesis of the brainstem(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of nervous system(parent)

Severe mental retardation (I.Q. 20-34)(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1269233006
UMLS CUI: C5780029
Fully Specified Name: Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 20

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.