X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome

disorder

SNOMED 1217228004CUI C5687848

Overview

X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia 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.

Dysmorphic facies

Very frequent (80-99%)HP:0001999

Epilepsy

Very frequent (80-99%)HP:0001250

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Anteverted ears

Frequent (30-79%)HP:0040080

Ataxia

Frequent (30-79%)HP:0001251

Autism

Frequent (30-79%)HP:0000717

Cryptorchidism

Frequent (30-79%)HP:0000028

Decreased size of cranium

Frequent (30-79%)HP:0000252

Gastro-esophageal reflux

Frequent (30-79%)HP:0002020

Growth deficiency

Frequent (30-79%)HP:0001510

Hypotonia, early

Frequent (30-79%)HP:0008947

Increased size of mandible

Frequent (30-79%)HP:0000303

Large ears

Frequent (30-79%)HP:0000400

No speech development

Frequent (30-79%)HP:0001344

Scoliosis

Frequent (30-79%)HP:0002650

Small cerebellum

Frequent (30-79%)HP:0001321

Speech and language difficulties

Frequent (30-79%)HP:0000750

Spondyloepiphyseal dysplasia

Frequent (30-79%)HP:0002655

Atria septal defect

Occasional (5-29%)HP:0001631

Contractures of the joints of the lower limbs

Occasional (5-29%)HP:0005750

Decreased testicular size

Occasional (5-29%)HP:0008734

Decreased volume of upper lip

Occasional (5-29%)HP:0000219

Delayed puberty

Occasional (5-29%)HP:0000823

Fatty lump

Occasional (5-29%)HP:0012032

Febrile seizure (within the age range of 3 months to 6 years)

Occasional (5-29%)HP:0002373

Flat philtrum

Occasional (5-29%)HP:0000319

Focal seizures

Occasional (5-29%)HP:0007359

Generalised tonic seizures

Occasional (5-29%)HP:0010818

Generalized tonic-clonic seizure (without specification of onset)

Occasional (5-29%)HP:0002069

Hirsutism

Occasional (5-29%)HP:0001007

Related Conditions

X-linked recessive hereditary disease(parent)

Congenital cerebellar hypoplasia(parent)

Spondyloepiphyseal dysplasia congenita(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Hereditary disorder of nervous system(parent)

Global developmental delay(parent)

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

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1217228004
UMLS CUI: C5687848
Fully Specified Name: X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia 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.