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.

Mental and motor retardation

Very frequent (80-99%)HP:0001263

No development of motor milestones

Very frequent (80-99%)HP:0001270

Speech delay

Very frequent (80-99%)HP:0000750

Autism spectrum disorder

Frequent (30-79%)HP:0000729

Behavioral changes

Frequent (30-79%)HP:0000708

Central hypotonia

Frequent (30-79%)HP:0001252

Increased width of bridge of nose

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

Problems speaking

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

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

Bilateral nanophthalmos

Occasional (5-29%)HP:0007633

Camptodactyly

Occasional (5-29%)HP:0012385

Cardiac anomaly

Occasional (5-29%)HP:0001627

Clinodactyly

Occasional (5-29%)HP:0030084

Concave bridge of nose

Occasional (5-29%)HP:0005280

Cryptorchidism

Occasional (5-29%)HP:0000028

Decreased body height

Occasional (5-29%)HP:0004322

Downturned corners of mouth

Occasional (5-29%)HP:0002714

Electroencephalogram abnormal

Occasional (5-29%)HP:0002353

Enlarged mandible

Occasional (5-29%)HP:0000303

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.