Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome

disorder

SNOMED 722037004CUI C1846278

Overview

Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity 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.

Psychomotor development deficiency

Always present (100%)HP:0001263

Cryptorchidism

Very frequent (80-99%)HP:0000028

Decreased function of male gonad

Very frequent (80-99%)HP:0000026

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Electroencephalogram abnormal

Very frequent (80-99%)HP:0002353

Global developmental delay, severe

Very frequent (80-99%)HP:0011344

Hypogenitalism

Very frequent (80-99%)HP:0003241

Hypoplasia of penis

Very frequent (80-99%)HP:0008736

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Obesity

Very frequent (80-99%)HP:0001513

Prominent ear lobes

Very frequent (80-99%)HP:0009748

Prominent lips

Very frequent (80-99%)HP:0012471

Round, full face

Very frequent (80-99%)HP:0000311

Short penis

Very frequent (80-99%)HP:0000054

Sloping forehead

Very frequent (80-99%)HP:0000340

Very poor growth

Very frequent (80-99%)HP:0001510

Agitation

Frequent (30-79%)HP:0000713

Big cheeks

Frequent (30-79%)HP:0000293

Birth length less than 3rd percentile

Frequent (30-79%)HP:0003561

Central hypotonia

Frequent (30-79%)HP:0001252

Downturned corners of mouth

Frequent (30-79%)HP:0002714

Epilepsy

Frequent (30-79%)HP:0001250

Fetal foot inversion

Frequent (30-79%)HP:0001762

Hypertonia

Frequent (30-79%)HP:0001276

Increased reflexes

Frequent (30-79%)HP:0001347

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Low birth weight

Frequent (30-79%)HP:0001518

Tapering fingers

Frequent (30-79%)HP:0001182

Truncal hypotonia

Frequent (30-79%)HP:0008936

Related Conditions

Multiple system malformation syndrome(parent)

Mitochondrial cytopathy(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Genetic obesity disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 722037004
UMLS CUI: C1846278
Fully Specified Name: Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity 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.