Microcephalus with albinism and digital anomaly syndrome

disorder

SNOMED 719377004CUI C1859910

Overview

Microcephalus with albinism and digital anomaly 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.

Cognitive delay

Very frequent (80-99%)HP:0001263

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Distal phalangeal hypoplasia

Very frequent (80-99%)HP:0009882

Hypopigmentation of the skin

Very frequent (80-99%)HP:0001010

Hypoplasia/agenesis of distal phalanges of toes

Very frequent (80-99%)HP:0010185

Hypoplastic mandible

Very frequent (80-99%)HP:0000347

Iris hypopigmentation

Very frequent (80-99%)HP:0007730

Albinism

HP:0001022

Related Conditions

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

Oculocutaneous albinism(parent)

Congenital anomaly of jaw(parent)

Congenital anomaly of digit(parent)

Congenital microcephalus(parent)

Quick Facts

SNOMED CT: 719377004
UMLS CUI: C1859910
Fully Specified Name: Microcephalus with albinism and digital anomaly syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 8

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.