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.

Bulbous nasal tip

Always present (100%)HP:0000414

Delayed milestone development

Always present (100%)HP:0012434

Poor school performance

Always present (100%)HP:0001249

Cerebellar hypoplasia/atrophy

Very frequent (80-99%)HP:0007360

Coarse face

Very frequent (80-99%)HP:0000280

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

Global developmental delay, severe

Very frequent (80-99%)HP:0011344

Hyporeflexia

Very frequent (80-99%)HP:0001265

Infratentorial atrophy

Very frequent (80-99%)HP:0001272

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Speech delay

Very frequent (80-99%)HP:0000750

Abnormal skeletal morphology

Frequent (30-79%)HP:0011842

Ataxia

Frequent (30-79%)HP:0001251

Autism spectrum disorder

Frequent (30-79%)HP:0000729

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

Apraxia

Occasional (5-29%)HP:0002186

Atria septal defect

Occasional (5-29%)HP:0001631

Big cheeks

Occasional (5-29%)HP:0000293

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.