Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome

disorder

SNOMED 721903007CUI C2931267

Overview

Microcephaly, hypogammaglobulinemia, abnormal immunity 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.

Cognitive delay

Very frequent (80-99%)HP:0001263

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Malformation of face

Very frequent (80-99%)HP:0001999

Transient hypogammaglobulinemia of infancy

Very frequent (80-99%)HP:0005432

Convex bridge of nose

Frequent (30-79%)HP:0000426

Decreased activity of gonads

Frequent (30-79%)HP:0000135

Decreased serum immunoglobulin

Frequent (30-79%)HP:0004313

Deformity of the skull

Frequent (30-79%)HP:0001363

Delayed language development

Frequent (30-79%)HP:0000750

Erythema nodosum

Frequent (30-79%)HP:0012219

Fixed flexion at the elbow joint

Frequent (30-79%)HP:0002987

Flexion contractures of knees

Frequent (30-79%)HP:0006380

High arched palate

Frequent (30-79%)HP:0000218

Hooked nose

Frequent (30-79%)HP:0000444

Hypoplastic mandible

Frequent (30-79%)HP:0000347

Impaired neutrophil chemotaxis

Frequent (30-79%)HP:0040238

Inflammation of fat tissue

Frequent (30-79%)HP:0012490

Large ears

Frequent (30-79%)HP:0000400

Multiple epiphyseal dysplasia

Frequent (30-79%)HP:0002654

Patellar hypoplasia

Frequent (30-79%)HP:0003065

Protruding ear

Frequent (30-79%)HP:0000411

Recurrent patellar dislocation

Frequent (30-79%)HP:0005001

Scoliosis

Frequent (30-79%)HP:0002650

Sloping forehead

Frequent (30-79%)HP:0000340

Abnormality of position of teeth

Occasional (5-29%)HP:0000692

Abnormality of the hairline

Occasional (5-29%)HP:0009553

Ankle clonus

Occasional (5-29%)HP:0011448

Broad, upturned nose

Occasional (5-29%)HP:0000455

Cellular immune defect

Occasional (5-29%)HP:0002843

Cryptorchidism

Occasional (5-29%)HP:0000028

Related Conditions

Congenital immunodeficiency disease(parent)

Primary immune deficiency disorder(parent)

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

Recessive hereditary disorder (autosomal)(parent)

Developmental hereditary disorder(parent)

Congenital microcephalus(parent)

Quick Facts

SNOMED CT: 721903007
UMLS CUI: C2931267
Fully Specified Name: Microcephaly, hypogammaglobulinemia, abnormal immunity 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.