Microcephalic primordial dwarfism Dauber type

disorder

SNOMED 770565003CUI C4749303

Overview

Microcephalic primordial dwarfism Dauber type 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.

Abnormal formation of the hip

Frequent (30-79%)HP:0001385

Anomalous carpal bones

Frequent (30-79%)HP:0001191

Decreased body height

Frequent (30-79%)HP:0004322

Decreased size of cranium

Frequent (30-79%)HP:0000252

Epilepsy

Frequent (30-79%)HP:0001250

Large nose

Frequent (30-79%)HP:0000448

Lumbar scoliosis

Frequent (30-79%)HP:0004626

Madelung deformity

Frequent (30-79%)HP:0003067

Marked growth retardation

Frequent (30-79%)HP:0008850

Mental and motor retardation

Frequent (30-79%)HP:0001263

Mental retardation, severe

Frequent (30-79%)HP:0010864

Microtia

Frequent (30-79%)HP:0008551

Obesity

Frequent (30-79%)HP:0001513

Ocular hypotelorism

Frequent (30-79%)HP:0000601

Permanent curving of the pinkie finger

Frequent (30-79%)HP:0004209

Primary amenorrhea

Frequent (30-79%)HP:0000786

Retarded ossification

Frequent (30-79%)HP:0002750

Severe intrauterine growth retardation

Frequent (30-79%)HP:0008846

Short limbs

Frequent (30-79%)HP:0009826

Subglottic stenosis

Frequent (30-79%)HP:0001607

Two underdeveloped breasts

Frequent (30-79%)HP:0012814

Type A3 brachydactyly

Frequent (30-79%)HP:0004220

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

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

Primordial dwarfism(parent)

Developmental hereditary disorder(parent)

Congenital microcephalus(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 770565003
UMLS CUI: C4749303
Fully Specified Name: Microcephalic primordial dwarfism Dauber type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 22

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.