THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome

disorder

SNOMED 773554009CUI C3150939

Overview

THO complex 6-related developmental delay, microcephaly, facial dysmorphism 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.

Decreased size of cranium

Always present (100%)HP:0000252

Mental deficiency

Always present (100%)HP:0001249

Mongoloid slant

Always present (100%)HP:0000582

Short palpebral fissure

Always present (100%)HP:0012745

Enophthalmos

Very frequent (80-99%)HP:0000490

High forehead

Very frequent (80-99%)HP:0000348

Increased nasal height

Very frequent (80-99%)HP:0003189

Malformation of face

Very frequent (80-99%)HP:0001999

Mild microcephaly

Very frequent (80-99%)HP:0040196

Rounded columella

Very frequent (80-99%)HP:0009765

Speech delay

Very frequent (80-99%)HP:0000750

Tooth abnormalities

Very frequent (80-99%)HP:0000164

Abnormal brain morphology

Frequent (30-79%)HP:0012443

Cardiac anomaly

Frequent (30-79%)HP:0001627

Cognitive delay

Frequent (30-79%)HP:0001263

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Dysplasia of corpus callosum

Frequent (30-79%)HP:0006989

Flat philtrum

Frequent (30-79%)HP:0000319

Genitourinary dysplasia

Frequent (30-79%)HP:0000119

Mental retardation, severe

Frequent (30-79%)HP:0010864

Near sighted

Frequent (30-79%)HP:0000545

Palpebronasal fold

Frequent (30-79%)HP:0000286

Repeated bladder infections

Frequent (30-79%)HP:0000010

Retrognathia

Frequent (30-79%)HP:0000278

Rotting teeth

Frequent (30-79%)HP:0000670

VSD

Frequent (30-79%)HP:0001629

Absent anus

Occasional (5-29%)HP:0002023

Atria septal defect

Occasional (5-29%)HP:0001631

Camptodactyly

Occasional (5-29%)HP:0012385

Decreased projection of lower jaw

Occasional (5-29%)HP:0000347

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

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

Global developmental delay(parent)

Developmental hereditary disorder(parent)

Congenital microcephalus(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 773554009
UMLS CUI: C3150939
Fully Specified Name: THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.