Zellweger-like syndrome without peroxisomal anomaly

disorder

SNOMED 718880003CUI C4305104

Overview

Zellweger-like syndrome without peroxisomal anomaly 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.

Bilateral single transverse palmar creases

Very frequent (80-99%)HP:0007598

Cognitive delay

Very frequent (80-99%)HP:0001263

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Frontal protuberance

Very frequent (80-99%)HP:0002007

High arched palate

Very frequent (80-99%)HP:0000218

High forehead

Very frequent (80-99%)HP:0000348

Hyporeflexia

Very frequent (80-99%)HP:0001265

Increased width of bridge of nose

Very frequent (80-99%)HP:0000431

Mask-like facies

Very frequent (80-99%)HP:0000298

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Mongoloid slant

Very frequent (80-99%)HP:0000582

Nostrils anteverted

Very frequent (80-99%)HP:0000463

Palpebronasal fold

Very frequent (80-99%)HP:0000286

Peripheral hypotonia

Very frequent (80-99%)HP:0001252

Small pointed chin

Very frequent (80-99%)HP:0000307

Decreased body height

Frequent (30-79%)HP:0004322

Enlarged liver

Frequent (30-79%)HP:0002240

Fractured hair

Frequent (30-79%)HP:0002299

Hair loss

Frequent (30-79%)HP:0001596

Melanoderma

Frequent (30-79%)HP:0000953

Postnatal failure to thrive

Frequent (30-79%)HP:0001508

Small for gestational age infant

Frequent (30-79%)HP:0001511

Related Conditions

Multiple malformation syndrome with unusual brain and/or neuromuscular findings(parent)

Recessive hereditary disorder (autosomal)(parent)

Mitochondrial cytopathy(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 718880003
UMLS CUI: C4305104
Fully Specified Name: Zellweger-like syndrome without peroxisomal anomaly (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 22

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.