Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency

disorder

SNOMED 787093004CUI C5192431

Overview

Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like 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.

Delayed motor milestones

Very frequent (80-99%)HP:0001270

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Speech difficulties

Very frequent (80-99%)HP:0000750

Autism spectrum disorder

Frequent (30-79%)HP:0000729

Behavioural/Psychiatric abnormality

Frequent (30-79%)HP:0000708

Broad flat nasal bridge

Frequent (30-79%)HP:0000431

Lingual hyperplasia

Frequent (30-79%)HP:0000158

Low-set ears

Frequent (30-79%)HP:0000369

Moderate mental retardation

Frequent (30-79%)HP:0002342

Mongoloid slant

Frequent (30-79%)HP:0000582

Muscular hypotonia

Frequent (30-79%)HP:0001252

Poor speech

Frequent (30-79%)HP:0002465

Slack jawed appearance

Frequent (30-79%)HP:0000194

Specific learning disability

Frequent (30-79%)HP:0001328

Abnormal hands

Occasional (5-29%)HP:0001155

Abnormally small eyeball on both sides

Occasional (5-29%)HP:0007633

Aggression

Occasional (5-29%)HP:0000718

Anterior segment mesencyhmal dysgenesis

Occasional (5-29%)HP:0007700

Arthrogryposis-like hand anomaly

Occasional (5-29%)HP:0005612

Ataxia

Occasional (5-29%)HP:0001251

Autism

Occasional (5-29%)HP:0000717

Camptodactyly

Occasional (5-29%)HP:0012385

Cardiac anomaly

Occasional (5-29%)HP:0001627

Cryptorchidism

Occasional (5-29%)HP:0000028

Curvature of digit

Occasional (5-29%)HP:0030084

Decreased body height

Occasional (5-29%)HP:0004322

Decreased projection of midface

Occasional (5-29%)HP:0011800

Depressed nasal root/bridge

Occasional (5-29%)HP:0005280

Downturned corners of mouth

Occasional (5-29%)HP:0002714

Electroencephalogram abnormal

Occasional (5-29%)HP:0002353

Related Conditions

Autosomal dominant hereditary disorder(parent)

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

Global developmental delay(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 787093004
UMLS CUI: C5192431
Fully Specified Name: Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (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.