Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome

disorder

SNOMED 773551001CUI C4750954

Overview

Severe intellectual disability, poor language, strabismus, grimacing face, long fingers 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.

Abnormality of the cerebral white matter

Frequent (30-79%)HP:0002500

Broad, upturned nose

Frequent (30-79%)HP:0000455

Cognitive delay

Frequent (30-79%)HP:0001263

Decreased height of philtrum

Frequent (30-79%)HP:0000322

Decreased volume of upper lip

Frequent (30-79%)HP:0000219

Delayed myelination

Frequent (30-79%)HP:0012448

Difficulty speaking

Frequent (30-79%)HP:0002465

Facial grimacing

Frequent (30-79%)HP:0000273

Fine hair

Frequent (30-79%)HP:0002213

Generalized non-motor (absence) seizure

Frequent (30-79%)HP:0002121

hyperkinetic disorder

Frequent (30-79%)HP:0000752

Hyperopic astigmatism

Frequent (30-79%)HP:0000484

Hypotonia, early

Frequent (30-79%)HP:0008947

Increased width of the forehead

Frequent (30-79%)HP:0000337

Large mouth

Frequent (30-79%)HP:0000154

Long fingers

Frequent (30-79%)HP:0100807

Mental retardation, severe

Frequent (30-79%)HP:0010864

Squint

Frequent (30-79%)HP:0000486

Abnormal curving of the cornea or lens of the eye

Occasional (5-29%)HP:0000483

Autism spectrum disorder

Occasional (5-29%)HP:0000729

Broad distal phalanx of finger

Occasional (5-29%)HP:0009836

Chronic constipation

Occasional (5-29%)HP:0012450

Decreased projection of lower jaw

Occasional (5-29%)HP:0000347

Diastema between maxillary central incisors

Occasional (5-29%)HP:0001566

Enophthalmos

Occasional (5-29%)HP:0000490

Feeding difficulties

Occasional (5-29%)HP:0011968

Flat nasal bridge

Occasional (5-29%)HP:0005280

Frontal protuberance

Occasional (5-29%)HP:0002007

Fullness around the eyes

Occasional (5-29%)HP:0000629

High arched palate

Occasional (5-29%)HP:0000218

Related Conditions

Autosomal dominant hereditary disorder(parent)

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

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 773551001
UMLS CUI: C4750954
Fully Specified Name: Severe intellectual disability, poor language, strabismus, grimacing face, long fingers 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.