FG syndrome type 1

disorder

SNOMED 1237179007CUI C5399762

Overview

FG syndrome type 1 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.

Broad big toe

Always present (100%)HP:0010055

Broad thumbs

Always present (100%)HP:0011304

Mental-retardation

Always present (100%)HP:0001249

Microtia, first degree

Always present (100%)HP:0011266

Simple ear

Always present (100%)HP:0020206

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Protruding forehead

Very frequent (80-99%)HP:0011220

Abnormal large intestine morphology

Frequent (30-79%)HP:0002250

Atria septal defect

Frequent (30-79%)HP:0001631

Broad neck

Frequent (30-79%)HP:0000475

Capuchin ears

Frequent (30-79%)HP:0000378

Cerebellar abnormality

Frequent (30-79%)HP:0001317

Cryptorchidism

Frequent (30-79%)HP:0000028

Decreased body height

Frequent (30-79%)HP:0004322

Decreased projection of lower jaw

Frequent (30-79%)HP:0000347

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Drooling

Frequent (30-79%)HP:0002307

Fallen arches

Frequent (30-79%)HP:0001763

Flat head

Frequent (30-79%)HP:0001357

Frontal upsweep of hair

Frequent (30-79%)HP:0002236

Fused teeth

Frequent (30-79%)HP:0011090

Generalized joint laxity

Frequent (30-79%)HP:0002761

Generalized low muscle tone in neonate

Frequent (30-79%)HP:0008935

High arched palate

Frequent (30-79%)HP:0000218

High forehead

Frequent (30-79%)HP:0000348

Hypoplastic optic nerves

Frequent (30-79%)HP:0000609

Hypoplastic or absent corpus callosum

Frequent (30-79%)HP:0007370

Hypospadias

Frequent (30-79%)HP:0000047

Hypotrophic malar bone

Frequent (30-79%)HP:0000272

Related Conditions

X-linked recessive hereditary disease(parent)

Developmental delay(parent)

Developmental hereditary disorder(parent)

FG syndrome(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1237179007
UMLS CUI: C5399762
Fully Specified Name: FG syndrome type 1 (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.