Hypotonia, speech impairment, severe cognitive delay syndrome

disorder

SNOMED 763722004CUI C4706556

Overview

Hypotonia, speech impairment, severe cognitive delay 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.

Cognitive delay

Very frequent (80-99%)HP:0001263

Esotropia

Very frequent (80-99%)HP:0000565

Hypotonia, early

Very frequent (80-99%)HP:0008947

Mental retardation, severe

Very frequent (80-99%)HP:0010864

No development of motor milestones

Very frequent (80-99%)HP:0001270

No speech development

Very frequent (80-99%)HP:0001344

Speech difficulties

Very frequent (80-99%)HP:0000750

Squint

Very frequent (80-99%)HP:0000486

Tapered distal phalanges of the hand

Very frequent (80-99%)HP:0009884

Arachnodactyly

Frequent (30-79%)HP:0001166

Broad flat nasal bridge

Frequent (30-79%)HP:0000431

Cachexia

Frequent (30-79%)HP:0004326

Congenital hypotonia

Frequent (30-79%)HP:0001319

Convex bridge of nose

Frequent (30-79%)HP:0000426

Decreased body height

Frequent (30-79%)HP:0004322

Decreased height of philtrum

Frequent (30-79%)HP:0000322

Decreased projection of mandible

Frequent (30-79%)HP:0000347

Decreased size of cranium

Frequent (30-79%)HP:0000252

Decreased volume of upper lip

Frequent (30-79%)HP:0000219

Disproportionately small hands

Frequent (30-79%)HP:0200055

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Dyschezia

Frequent (30-79%)HP:0002019

Dyskinesia

Frequent (30-79%)HP:0100660

Dysmorphic facies

Frequent (30-79%)HP:0001999

Electroencephalogram abnormal

Frequent (30-79%)HP:0002353

Epilepsy

Frequent (30-79%)HP:0001250

Feeding difficulties

Frequent (30-79%)HP:0011968

Flat philtrum

Frequent (30-79%)HP:0000319

Foot, talipes equinovarus

Frequent (30-79%)HP:0001762

Frontal protuberance

Frequent (30-79%)HP:0002007

Related Conditions

Degenerative brain disorder(parent)

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

Recessive hereditary disorder (autosomal)(parent)

Congenital anomaly of brain(parent)

Congenital degeneration of nervous system(parent)

Hereditary degenerative disease of central nervous system(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 763722004
UMLS CUI: C4706556
Fully Specified Name: Hypotonia, speech impairment, severe cognitive delay 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.