Signal sequence receptor subunit 4 congenital disorder of glycosylation

disorder

SNOMED 733115009CUI C4012395

Overview

Signal sequence receptor subunit 4 congenital disorder of glycosylation 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.

Decreased size of cranium

Always present (100%)HP:0000252

Distortion of face

Always present (100%)HP:0001999

Mental and motor retardation

Always present (100%)HP:0001263

Mental-retardation

Always present (100%)HP:0001249

Peripheral hypotonia

Always present (100%)HP:0001252

Deep set eye

Very frequent (80-99%)HP:0000490

Deformity of the upper lip vermillion

Very frequent (80-99%)HP:0011339

Digestive system disease

Very frequent (80-99%)HP:0011024

Feeding difficulties

Very frequent (80-99%)HP:0011968

Gastroesophageal reflux disease

Very frequent (80-99%)HP:0002020

Large mouth

Very frequent (80-99%)HP:0000154

Macrotia

Very frequent (80-99%)HP:0000400

Poor weight gain

Very frequent (80-99%)HP:0001508

Squint

Very frequent (80-99%)HP:0000486

Vomiting

Very frequent (80-99%)HP:0002013

Wide-spaced teeth

Very frequent (80-99%)HP:0000687

Epilepsy

Frequent (30-79%)HP:0001250

Abnormality of coagulation

Occasional (5-29%)HP:0001928

Abnormality of the cardiovascular system

Occasional (5-29%)HP:0001626

Abnormality of the periventricular white matter

Occasional (5-29%)HP:0002518

Absence of the septum pellucidum

Occasional (5-29%)HP:0001331

Horseshoe kidney

Occasional (5-29%)HP:0000085

Hypoplasia of corpus callosum

Occasional (5-29%)HP:0002079

Joint dislocation

Occasional (5-29%)HP:0001373

Scoliosis

Occasional (5-29%)HP:0002650

Skeletal anomalies

Occasional (5-29%)HP:0000924

Abnormality of the coagulation cascade

Very rare (1-4%)HP:0003256

PDA

Very rare (1-4%)HP:0001643

Clinodactyly

HP:0030084

Decreased projection of mandible

HP:0000347

Related Conditions

Carbohydrate-deficient glycoprotein syndrome type I(parent)

X-linked recessive hereditary disease(parent)

Quick Facts

SNOMED CT: 733115009
UMLS CUI: C4012395
Fully Specified Name: Congenital disorder of glycosylation type 1y (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.