Microcephalic primordial dwarfism Alazami type

disorder

SNOMED 770564004CUI C3554439

Overview

Microcephalic primordial dwarfism Alazami 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.

Short stature, severe

Always present (100%)HP:0003510

Enophthalmos

Very frequent (80-99%)HP:0000490

Growth delay as children

Very frequent (80-99%)HP:0008897

Increased nasal width

Very frequent (80-99%)HP:0000445

Large mouth

Very frequent (80-99%)HP:0000154

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Weight less than 3rd percentile

Very frequent (80-99%)HP:0004325

Wide-spaced teeth

Very frequent (80-99%)HP:0000687

Abnormal eating behaviour

Frequent (30-79%)HP:0100738

Cutis marmorata

Frequent (30-79%)HP:0000965

Decreased height of philtrum

Frequent (30-79%)HP:0000322

Decreased size of cranium

Frequent (30-79%)HP:0000252

Diffusely thickened skin

Frequent (30-79%)HP:0001072

Excessive, persistent worry and fear

Frequent (30-79%)HP:0000739

Hypotrophic malar bone

Frequent (30-79%)HP:0000272

Inverted triangular face

Frequent (30-79%)HP:0000325

Low-set ears

Frequent (30-79%)HP:0000369

Mild microcephaly

Frequent (30-79%)HP:0040196

Narrow palpebral fissure

Frequent (30-79%)HP:0045025

Prominent lips

Frequent (30-79%)HP:0012471

Short palpebral fissure

Frequent (30-79%)HP:0012745

Sparse eyebrow

Frequent (30-79%)HP:0045075

Stimming

Frequent (30-79%)HP:0000733

Abnormality of the orbital region

Occasional (5-29%)HP:0000315

Atria septal defect

Occasional (5-29%)HP:0001631

Epilepsy

Occasional (5-29%)HP:0001250

Protruding forehead

Occasional (5-29%)HP:0011220

Retractile testis

Occasional (5-29%)HP:0012646

Scoliosis

Occasional (5-29%)HP:0002650

Self-mutilation

Occasional (5-29%)HP:0000742

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Primordial dwarfism(parent)

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

Developmental hereditary disorder(parent)

Congenital microcephalus(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 770564004
UMLS CUI: C3554439
Fully Specified Name: Microcephalic primordial dwarfism Alazami type (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.