Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome

disorder

SNOMED 782753000CUI C5190595

Overview

Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy 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.

Delayed milestone development

Always present (100%)HP:0012434

Poor school performance

Always present (100%)HP:0001249

Potato nose

Always present (100%)HP:0000414

Cerebellar hypoplasia/atrophy

Very frequent (80-99%)HP:0007360

Delayed ability to sit

Very frequent (80-99%)HP:0025336

Delayed fine motor development

Very frequent (80-99%)HP:0010862

Delayed gross motor development

Very frequent (80-99%)HP:0002194

Delayed language development

Very frequent (80-99%)HP:0000750

Hyporeflexia

Very frequent (80-99%)HP:0001265

Infratentorial atrophy

Very frequent (80-99%)HP:0001272

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Severe psychomotor retardation

Very frequent (80-99%)HP:0011344

Thickened facial skin with coarse facial features

Very frequent (80-99%)HP:0000280

Abnormal skeletal morphology

Frequent (30-79%)HP:0011842

ASD

Frequent (30-79%)HP:0000729

Ataxia

Frequent (30-79%)HP:0001251

Frontal protuberance

Frequent (30-79%)HP:0002007

Increased hair growth on body

Frequent (30-79%)HP:0000998

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Kyphoscoliosis

Frequent (30-79%)HP:0002751

Lingual hyperplasia

Frequent (30-79%)HP:0000158

Muscular hypotonia

Frequent (30-79%)HP:0001252

Nonverbal

Frequent (30-79%)HP:0001344

Relatively large head

Frequent (30-79%)HP:0004482

Swelling of eyelids

Frequent (30-79%)HP:0100540

Wide based walk

Frequent (30-79%)HP:0002136

Abnormality of the cerebral white matter

Occasional (5-29%)HP:0002500

Apraxia

Occasional (5-29%)HP:0002186

Atria septal defect

Occasional (5-29%)HP:0001631

Brachydactyly

Occasional (5-29%)HP:0001156

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

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

Congenital cerebellar hypoplasia(parent)

Hereditary ataxia(parent)

Global developmental delay(parent)

Early onset cerebellar ataxia(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 782753000
UMLS CUI: C5190595
Fully Specified Name: Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy 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.