Pili torti with developmental delay and neurological abnormality syndrome

disorder

SNOMED 716194005CUI C4274783

Overview

Pili torti with developmental delay and neurological abnormality 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.

Abnormality of hair consistency

Very frequent (80-99%)HP:0010719

Ataxia

Very frequent (80-99%)HP:0001251

Ligamentous laxity

Very frequent (80-99%)HP:0001382

Pili torti

Very frequent (80-99%)HP:0003777

Poor growth

Very frequent (80-99%)HP:0001510

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Sparse to absent eyebrows

Very frequent (80-99%)HP:0100840

Sparse to absent eyelashes

Very frequent (80-99%)HP:0200102

Gait disturbance

Frequent (30-79%)HP:0001288

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Related Conditions

Pili torti(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 716194005
UMLS CUI: C4274783
Fully Specified Name: Pili torti with developmental delay and neurological abnormality syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 10

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.