Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome

disorder

SNOMED 782755007CUI C5190597

Overview

Primary microcephaly, mild intellectual disability, young-onset diabetes 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.

Birth weight less than 10th percentile

Very frequent (80-99%)HP:0001518

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Diabetes mellitus

Very frequent (80-99%)HP:0000819

Dull intelligence

Very frequent (80-99%)HP:0001249

Head circumference small for gestational age

Very frequent (80-99%)HP:0011451

Short stature, proportionate

Very frequent (80-99%)HP:0003508

Delayed puberty

Frequent (30-79%)HP:0000823

Difficulty speaking

Frequent (30-79%)HP:0002465

Epilepsy

Frequent (30-79%)HP:0001250

Funny looking face

Frequent (30-79%)HP:0001999

Low blood sugar

Frequent (30-79%)HP:0001943

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Small for gestational age infant

Frequent (30-79%)HP:0001511

Weight less than 3rd percentile

Frequent (30-79%)HP:0004325

Brisk deep tendon reflexes

Occasional (5-29%)HP:0001348

Clinodactyly

Occasional (5-29%)HP:0030084

Decreased height of philtrum

Occasional (5-29%)HP:0000322

Decreased projection of lower jaw

Occasional (5-29%)HP:0000347

Decreased size of teeth

Occasional (5-29%)HP:0000685

Decreased transverse dimension of face

Occasional (5-29%)HP:0000275

Decreased volume of upper lip

Occasional (5-29%)HP:0000219

Delayed myelination

Occasional (5-29%)HP:0012448

Deviation of the 5th toe

Occasional (5-29%)HP:0010344

Dorsocervical fat pad

Occasional (5-29%)HP:0025383

Down-slanting palpebral fissure

Occasional (5-29%)HP:0000494

Downturned corners of mouth

Occasional (5-29%)HP:0002714

Fine hair

Occasional (5-29%)HP:0002213

Grey sclerae

Occasional (5-29%)HP:0000592

High pitched voice

Occasional (5-29%)HP:0001620

Hyperketosis

Occasional (5-29%)HP:0001946

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Small stature(parent)

Mild mental retardation (I.Q. 50-70)(parent)

Hereditary disorder of endocrine system(parent)

Developmental hereditary disorder(parent)

Secondary diabetes mellitus(parent)

Congenital microcephalus(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 782755007
UMLS CUI: C5190597
Fully Specified Name: Primary microcephaly, mild intellectual disability, young-onset diabetes 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.