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Lissencephaly type 1 due to doublecortin gene mutation

disorder
SNOMED 715780008CUI C4275012

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.

Behavioural/Psychiatric abnormality
Very frequent (80-99%)HP:0000708
Intellectual impairment
Very frequent (80-99%)HP:0100543
Language impairment
Very frequent (80-99%)HP:0002463
Seizures
Very frequent (80-99%)HP:0001250
Abnormal muscle tone
Frequent (30-79%)HP:0003808
Agyria diffuse
Frequent (30-79%)HP:0031882
Akinetic mutism
Frequent (30-79%)HP:0012672
Cerebral pachygyria
Frequent (30-79%)HP:0001302
CP
Frequent (30-79%)HP:0100021
Flexion contractures
Frequent (30-79%)HP:0001371
Focal seizures
Frequent (30-79%)HP:0007359
Generalised-onset seizure
Frequent (30-79%)HP:0002197
Infantile spasms
Frequent (30-79%)HP:0012469
Poor gross motor coordination
Frequent (30-79%)HP:0007015
Abnormal caudate nucleus morphology
Occasional (5-29%)HP:0002339
Agitation
Occasional (5-29%)HP:0000713
Aspiration
Occasional (5-29%)HP:0002835
Autism spectrum disorder
Occasional (5-29%)HP:0000729
Cerebral white matter atrophy
Occasional (5-29%)HP:0012762
Deglutition disorder
Occasional (5-29%)HP:0002015
Delayed myelination
Occasional (5-29%)HP:0012448
Dilatation of lateral cerebral ventricles
Occasional (5-29%)HP:0006956
Dilated Virchow-Robin spaces
Occasional (5-29%)HP:0012520
Epileptic encephalopathy
Occasional (5-29%)HP:0200134
Feeding difficulties in infancy
Occasional (5-29%)HP:0008872
Hypoplasia of corpus callosum
Occasional (5-29%)HP:0002079
Hypsarrhythmia by EEG
Occasional (5-29%)HP:0002521
Irritable mood
Occasional (5-29%)HP:0000737
Postnatal microcephaly
Occasional (5-29%)HP:0005484
Scoliosis
Occasional (5-29%)HP:0002650

Related Conditions

X-linked hereditary disease(parent)
Type 1 lissencephaly(parent)
Hereditary disorder of nervous system(parent)
Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT
715780008
UMLS CUI
C4275012
Fully Specified Name
Lissencephaly type 1 due to doublecortin gene mutation (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.