Overview
X-linked intellectual disability Kroes 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.
Abnormality of brainstem morphology
Frequent (30-79%)HP:0002363
Abnormality of the cerebral cortex
Frequent (30-79%)HP:0002538
Apneic episodes in infancy
Frequent (30-79%)HP:0005949
Cerebellar vermis hypoplasia
Frequent (30-79%)HP:0001320
Coloboma of choroid
Frequent (30-79%)HP:0000567
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Episodic tachypnea
Frequent (30-79%)HP:0002876
Feeding difficulties
Frequent (30-79%)HP:0011968
Hypotonia, early
Frequent (30-79%)HP:0008947
Low-set ears
Frequent (30-79%)HP:0000369
Mental and motor retardation
Frequent (30-79%)HP:0001263
Mental-retardation
Frequent (30-79%)HP:0001249
Nasogastric tube feeding
Frequent (30-79%)HP:0040288
Nonsyndromal hydrocephalus
Frequent (30-79%)HP:0000238
Seizures
Frequent (30-79%)HP:0001250
Absent tendon reflexes
Occasional (5-29%)HP:0001284
Cerebellar vermis aplasia
Occasional (5-29%)HP:0002335
Dandy-Walker cyst
Occasional (5-29%)HP:0001305
Decreased projection of mandible
Occasional (5-29%)HP:0000347
Deglutition disorder
Occasional (5-29%)HP:0002015
Frontal protuberance
Occasional (5-29%)HP:0002007
Increased distance between eyes
Occasional (5-29%)HP:0000316
Meckel diverticulum
Occasional (5-29%)HP:0002245
Poor sucking
Occasional (5-29%)HP:0002033
Posteriorly angulated ears
Occasional (5-29%)HP:0000358
Retrognathia
Occasional (5-29%)HP:0000278
Small nose
Occasional (5-29%)HP:0003196
Supernumerary ribs
Occasional (5-29%)HP:0005815
Thickening of the alae nasi
Occasional (5-29%)HP:0009928
Uncontrolled eye movements
Occasional (5-29%)HP:0007738
Related Conditions
Congenital cerebellar hypoplasia(parent)
Congenital ocular coloboma(parent)
Hereditary disorder of nervous system(parent)
Hereditary disorder of the visual system(parent)
Agenesis of corpus callosum(parent)
Developmental hereditary disorder(parent)
X-linked recessive hereditary disease(parent)
Multiple system malformation syndrome(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 770604006
- UMLS CUI
- C3275487
- Fully Specified Name
- X-linked cerebral, cerebellar, coloboma 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.