Severe X-linked intellectual disability Gustavson type

disorder

SNOMED 722213009CUI C4302744

Overview

Severe X-linked intellectual disability Gustavson type 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.

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Marked growth retardation

Very frequent (80-99%)HP:0008850

Optic atrophy

Very frequent (80-99%)HP:0000648

Profound hearing impairment

Very frequent (80-99%)HP:0012715

Seizures

Very frequent (80-99%)HP:0001250

Spasticity and rigidity of muscles

Very frequent (80-99%)HP:0001276

Apneic episodes in infancy

Frequent (30-79%)HP:0005949

Birth weight less than 10th percentile

Frequent (30-79%)HP:0001518

Blindness

Frequent (30-79%)HP:0000618

Brain wasting

Frequent (30-79%)HP:0012444

Dilated fourth ventricle

Frequent (30-79%)HP:0002198

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Mental retardation, severe

Frequent (30-79%)HP:0010864

Nasogastric tube feeding

Frequent (30-79%)HP:0040288

Recurrent URI

Frequent (30-79%)HP:0002788

Small soft spot

Frequent (30-79%)HP:0005486

Calcaneovalgus Foot

Occasional (5-29%)HP:0001848

Congenital hip dislocations

Occasional (5-29%)HP:0001374

Contractures of the large joints

Occasional (5-29%)HP:0005781

Dandy-Walker cyst

Occasional (5-29%)HP:0001305

Dilatation of lateral cerebral ventricles

Occasional (5-29%)HP:0006956

Dysplastic ears

Occasional (5-29%)HP:0000377

Equinovarus deformity

Occasional (5-29%)HP:0008110

Hypoplastic mandible

Occasional (5-29%)HP:0000347

Jerking

Occasional (5-29%)HP:0001336

Large pinnae

Occasional (5-29%)HP:0000400

Rocker bottom feet

Occasional (5-29%)HP:0001838

Severe muscular hypotonia

Occasional (5-29%)HP:0006829

Small cerebellum

Occasional (5-29%)HP:0001321

Small nose

Occasional (5-29%)HP:0003196

Related Conditions

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

Hearing loss associated with syndrome(parent)

Congenital atrophy of optic nerve(parent)

Congenital anomaly of optic nerve(parent)

Inherited optic neuropathy(parent)

Congenital hearing disorder(parent)

Congenital degeneration of nervous system(parent)

Hereditary degenerative disease of central nervous system(parent)

Developmental hereditary disorder(parent)

Congenital microcephalus(parent)

X-linked recessive hereditary disease(parent)

Genetic intellectual disability(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 722213009
UMLS CUI: C4302744
Fully Specified Name: Severe X-linked intellectual disability Gustavson 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.