Microlissencephaly micromelia syndrome

disorder

SNOMED 723405001CUI C4509878

Overview

Microlissencephaly micromelia 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.

11 pairs of ribs

Very frequent (80-99%)HP:0000878

Absent tendon reflexes

Very frequent (80-99%)HP:0001284

Bilateral single transverse palmar creases

Very frequent (80-99%)HP:0007598

Electroencephalogram abnormal

Very frequent (80-99%)HP:0002353

Fewer or absent grooves in brain

Very frequent (80-99%)HP:0001339

Generalized hypertrichosis

Very frequent (80-99%)HP:0004554

Hydramnios

Very frequent (80-99%)HP:0001561

Increased length of philtrum

Very frequent (80-99%)HP:0000343

Laboured breathing

Very frequent (80-99%)HP:0002098

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Micromelia

Very frequent (80-99%)HP:0002983

Mild fetal hydronephrosis

Very frequent (80-99%)HP:0010945

Postnatal microcephaly

Very frequent (80-99%)HP:0005484

Seizures

Very frequent (80-99%)HP:0001250

Short neck

Very frequent (80-99%)HP:0000470

Small cerebellum

Very frequent (80-99%)HP:0001321

Small nose

Very frequent (80-99%)HP:0003196

Swelling of eyelids

Very frequent (80-99%)HP:0100540

Thickened facial skin with coarse facial features

Very frequent (80-99%)HP:0000280

Thumb-in-palm pattern

Very frequent (80-99%)HP:0001181

Undergrowth

Very frequent (80-99%)HP:0001508

Abnormal Ca2+ PO4 regulating hormone level

Frequent (30-79%)HP:0100530

Central hypotonia

Frequent (30-79%)HP:0001252

Hypertonia

Frequent (30-79%)HP:0001276

Hypoparathyroidism

Frequent (30-79%)HP:0000829

Related Conditions

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

Micromelia(parent)

Recessive hereditary disorder (autosomal)(parent)

Lissencephaly(parent)

Hereditary disorder of nervous system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 723405001
UMLS CUI: C4509878
Fully Specified Name: Microlissencephaly micromelia syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 25

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.