Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome

disorder

SNOMED 1172629005CUI C5567481

Overview

Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability 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.

Coarse face

Very frequent (80-99%)HP:0000280

Failure to thrive in first year of life

Very frequent (80-99%)HP:0001531

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Seizures

Very frequent (80-99%)HP:0001250

Cerebral cortex atrophy

Frequent (30-79%)HP:0002120

CKD

Frequent (30-79%)HP:0012622

Decreased glomerular filtration rate

Frequent (30-79%)HP:0012213

Gait disturbance

Frequent (30-79%)HP:0001288

Intellectual disability, profound

Frequent (30-79%)HP:0002187

Microcephaly, progressive

Frequent (30-79%)HP:0000253

Multifocal cerebral white matter abnormalities

Frequent (30-79%)HP:0007052

Poor speech

Frequent (30-79%)HP:0002465

Proteinuria

Frequent (30-79%)HP:0000093

Secondary generalized tonic clonic seizures

Frequent (30-79%)HP:0007334

Abnormality of balance

Occasional (5-29%)HP:0002141

Aggression

Occasional (5-29%)HP:0000718

Blue discoloration of the skin

Occasional (5-29%)HP:0000961

Congenital dermal melanocytosis

Occasional (5-29%)HP:0100814

Deglutition disorder

Occasional (5-29%)HP:0002015

Difficulty articulating speech

Occasional (5-29%)HP:0001260

Dilatation of lateral cerebral ventricles

Occasional (5-29%)HP:0006956

Dilated cerebral ventricle

Occasional (5-29%)HP:0002119

Dysplasia of corpus callosum

Occasional (5-29%)HP:0006989

Fluid-filled sac located in membrane surrounding brain or spinal cord

Occasional (5-29%)HP:0100702

Generalised decreased muscle tone

Occasional (5-29%)HP:0001290

Genu valga

Occasional (5-29%)HP:0002857

Grey sclerae

Occasional (5-29%)HP:0000592

Hypoplasia of corpus callosum

Occasional (5-29%)HP:0002079

Increased reflexes

Occasional (5-29%)HP:0001347

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Related Conditions

Congenital microcephalus(parent)

Abnormal blue sclerae(parent)

Global developmental delay(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of the visual system(parent)

Mongolian spot(parent)

Hyperpigmentation of skin(parent)

Genetic disorder of skin pigmentation(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of the integument(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1172629005
UMLS CUI: C5567481
Fully Specified Name: Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability 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.