X-linked lissencephaly with abnormal genitalia syndrome

disorder

SNOMED 717632002CUI C1846171

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.

Decreased volume of upper lip

Always present (100%)HP:0000219

Absence of corpus callosum

Very frequent (80-99%)HP:0001274

Ambiguous external genitalia

Very frequent (80-99%)HP:0000062

Cerebral pachygyria

Very frequent (80-99%)HP:0001302

Cognitive delay

Very frequent (80-99%)HP:0001263

Cryptorchidism

Very frequent (80-99%)HP:0000028

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Hypoplasia of penis

Very frequent (80-99%)HP:0008736

Mental deficiency

Very frequent (80-99%)HP:0001249

Seizures

Very frequent (80-99%)HP:0001250

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Hypohidrosis

Frequent (30-79%)HP:0000966

Intestinal malabsorption

Frequent (30-79%)HP:0002024

Muscular hypotonia

Frequent (30-79%)HP:0001252

Aganglionic megacolon

Occasional (5-29%)HP:0002251

Bulging forehead

Occasional (5-29%)HP:0011220

Exocrine pancreatic insufficiency

Occasional (5-29%)HP:0001738

Hypoplastic mandible

Occasional (5-29%)HP:0000347

Involuntary muscle stiffness, contraction, or spasm

Occasional (5-29%)HP:0001257

PDA

Occasional (5-29%)HP:0001643

VSD

Occasional (5-29%)HP:0001629

Decreased testicular size

HP:0008734

Diarrhea

HP:0002014

Excess astrocytes in brain

HP:0002171

Feeding difficulties in infancy

HP:0008872

Fewer or absent grooves in brain

HP:0001339

Generalised decreased muscle tone

HP:0001290

Global developmental delay, severe

HP:0011344

High arched palate

HP:0000218

High forehead

HP:0000348

Related Conditions

Agenesis of corpus callosum(parent)

Lissencephaly(parent)

Congenital malformation of genital organs(parent)

Hereditary disorder of nervous system(parent)

Reproductive system hereditary disorder(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Quick Facts

SNOMED CT: 717632002
UMLS CUI: C1846171
Fully Specified Name: X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (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.