Congenital disorder of glycosylation type 1f

disorder

SNOMED 724096007CUI C1836669

Overview

Congenital disorder of glycosylation type 1f 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.

Global developmental delay, severe

Always present (100%)HP:0011344

Abnormal circulating enzyme concentration or activity

Very frequent (80-99%)HP:0012379

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Type I transferrin isoform profile

Very frequent (80-99%)HP:0003642

Hypotonia, early

Frequent (30-79%)HP:0008947

Muscular hypotonia

Frequent (30-79%)HP:0001252

Abnormality of the coagulation cascade

Occasional (5-29%)HP:0003256

Absence of acoustic reflex

Occasional (5-29%)HP:0008529

Biparietal bossing

Occasional (5-29%)HP:0000242

Cortical cysts

Occasional (5-29%)HP:0000803

Decreased response to growth hormone stimulation test

Occasional (5-29%)HP:0000824

Decreased serum insulin-like growth factor 1

Occasional (5-29%)HP:0030353

Decreased volume of lip vermillion

Occasional (5-29%)HP:0000233

Dermatitis

Occasional (5-29%)HP:0000964

Dilated cerebral ventricle

Occasional (5-29%)HP:0002119

Elevated serum creatine phosphokinase

Occasional (5-29%)HP:0003236

Erythematous plaque

Occasional (5-29%)HP:0025474

Feeding difficulties

Occasional (5-29%)HP:0011968

Hyperplasia of frontal sinus

Occasional (5-29%)HP:0005478

Hypsarrhythmia by EEG

Occasional (5-29%)HP:0002521

Ichthyosiform abnormality of the skin

Occasional (5-29%)HP:0008064

Nasogastric tube feeding

Occasional (5-29%)HP:0040288

Scaling skin

Occasional (5-29%)HP:0040189

Seizures

Occasional (5-29%)HP:0001250

Spasticity and rigidity of muscles

Occasional (5-29%)HP:0001276

Undetectable VEP

Occasional (5-29%)HP:0007965

Widened subarachnoid spaces

Occasional (5-29%)HP:0012704

Wider-than-typical soft spot of skull

Occasional (5-29%)HP:0000260

Ataxia

HP:0001251

Decreased size of cranium

HP:0000252

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Carbohydrate-deficient glycoprotein syndrome type I(parent)

Quick Facts

SNOMED CT: 724096007
UMLS CUI: C1836669
Fully Specified Name: Congenital disorder of glycosylation type 1f (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.