X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome

disorder

SNOMED 1197588008CUI C5681178

Overview

X-linked microcephaly, growth retardation, prognathism, cryptorchidism 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.

Central hypotonia

Always present (100%)HP:0001252

Cryptorchidism

Always present (100%)HP:0000028

Decreased size of cranium

Always present (100%)HP:0000252

Distortion of face

Always present (100%)HP:0001999

Epilepsy

Always present (100%)HP:0001250

Gastroesophageal reflux disease

Always present (100%)HP:0002020

Mandibular excess

Always present (100%)HP:0000303

Marked growth retardation

Always present (100%)HP:0008850

Predisposition to infections

Always present (100%)HP:0002719

Ankle flexion contracture

Frequent (30-79%)HP:0006466

Autoagression

Frequent (30-79%)HP:0100716

Branchial cleft cyst

Frequent (30-79%)HP:0009796

Camptodactyly

Frequent (30-79%)HP:0012385

Decreased volume of upper lip

Frequent (30-79%)HP:0000219

Flexion contractures of knees

Frequent (30-79%)HP:0006380

Hypospadias

Frequent (30-79%)HP:0000047

Laryngomalacia

Frequent (30-79%)HP:0001601

Partial syndactyly

Frequent (30-79%)HP:0006101

Prominent ear

Frequent (30-79%)HP:0000411

Pulmonary artery stenosis

Frequent (30-79%)HP:0004415

Sacral lipoma

Frequent (30-79%)HP:0012033

Sensorineural deafness

Frequent (30-79%)HP:0000407

Single flexion crease

Frequent (30-79%)HP:0000954

Tapering fingers

Frequent (30-79%)HP:0001182

Tooth size discrepancy

Frequent (30-79%)HP:0000678

Related Conditions

Congenital microcephalus(parent)

X-linked recessive hereditary disease(parent)

Genitourinary congenital anomalies(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

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

Congenital prognathism(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1197588008
UMLS CUI: C5681178
Fully Specified Name: X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 25

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.