Microcephalic primordial dwarfism due to ZNF335 deficiency

disorder

SNOMED 724141003CUI C4510378

Overview

Microcephalic primordial dwarfism due to ZNF335 deficiency 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.

Abnormal cerebral morphology

Very frequent (80-99%)HP:0002060

Abnormal neuronal morphology

Very frequent (80-99%)HP:0012757

Abnormality of the cerebral cortex

Very frequent (80-99%)HP:0002538

Brain wasting

Very frequent (80-99%)HP:0012444

Cerebellar signs

Very frequent (80-99%)HP:0001317

Cortical gyral simplification

Very frequent (80-99%)HP:0009879

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Decreased volume of cerebral cortex

Very frequent (80-99%)HP:0002472

Dilated cerebral ventricle

Very frequent (80-99%)HP:0002119

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Primordial dwarfism(parent)

Hereditary disorder of nervous system(parent)

Developmental hereditary disorder(parent)

Congenital microencephaly(parent)

Quick Facts

SNOMED CT: 724141003
UMLS CUI: C4510378
Fully Specified Name: Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 9

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.