Intellectual disability, hypotonia, facial dysmorphism syndrome

disorder

SNOMED 764861005CUI C2676770

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Feeding difficulties in infancy

Always present (100%)HP:0008872

Broad, upturned nose

Frequent (30-79%)HP:0000455

Cognitive delay

Frequent (30-79%)HP:0001263

Congenital hypotonia

Frequent (30-79%)HP:0001319

Decreased facial muscle movement

Frequent (30-79%)HP:0000338

Decreased height of philtrum

Frequent (30-79%)HP:0000322

Deglutition disorder

Frequent (30-79%)HP:0002015

Dysphonia

Frequent (30-79%)HP:0001618

Fatigable weakness of skeletal muscles

Frequent (30-79%)HP:0030197

Fatiguable weakness of proximal limb muscles

Frequent (30-79%)HP:0030200

Feeding difficulties

Frequent (30-79%)HP:0011968

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

High arched palate

Frequent (30-79%)HP:0000218

hyperkinetic disorder

Frequent (30-79%)HP:0000752

Hypoplastic mandible

Frequent (30-79%)HP:0000347

Increased length of eyelashes

Frequent (30-79%)HP:0000527

Increased width of incisor

Frequent (30-79%)HP:0011081

Narrow forehead

Frequent (30-79%)HP:0000341

Narrow, high-arched roof of mouth

Frequent (30-79%)HP:0002705

Nasal bridge, thin

Frequent (30-79%)HP:0000446

Nasogastric tube feeding

Frequent (30-79%)HP:0040288

Prominent ear

Frequent (30-79%)HP:0000411

Prominent lips

Frequent (30-79%)HP:0012471

Reduced subcutaneous adipose tissue

Frequent (30-79%)HP:0003758

Retromicrognathia

Frequent (30-79%)HP:0000308

Sacral dimple

Frequent (30-79%)HP:0000960

Slack jawed appearance

Frequent (30-79%)HP:0000194

Submucous cleft velum

Frequent (30-79%)HP:0011819

Tented mouth

Frequent (30-79%)HP:0010804

Thick, flared eyebrows

Frequent (30-79%)HP:0002553

Related Conditions

Multiple system malformation syndrome(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 764861005
UMLS CUI: C2676770
Fully Specified Name: Intellectual disability Birk-Barel type (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.