Congenital disorder of glycosylation type Ip

disorder

SNOMED 733085004CUI C3150913

Overview

Congenital disorder of glycosylation type Ip 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

EEG with generalized epileptiform discharges

Always present (100%)HP:0011198

Mental and motor retardation

Always present (100%)HP:0001263

Sensorineural deafness

Always present (100%)HP:0000407

Vomiting

Always present (100%)HP:0002013

Abnormal isoelectric focusing of transferrin

Very frequent (80-99%)HP:0003160

Hypotonia, early

Very frequent (80-99%)HP:0008947

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Reduced friendship reciprocity

Very frequent (80-99%)HP:0012760

Seizures

Very frequent (80-99%)HP:0001250

Type I transferrin isoform profile

Very frequent (80-99%)HP:0003642

Abnormality of vision

Frequent (30-79%)HP:0000504

Decreased size of cranium

Frequent (30-79%)HP:0000252

Distortion of face

Frequent (30-79%)HP:0001999

Feeding difficulties

Frequent (30-79%)HP:0011968

High blood ammonia levels

Frequent (30-79%)HP:0001987

Hypertonia

Frequent (30-79%)HP:0001276

Hypoacusis

Frequent (30-79%)HP:0000365

Increased reflexes

Frequent (30-79%)HP:0001347

Low anterior hairline

Frequent (30-79%)HP:0000294

Abnormal skeletal morphology

Occasional (5-29%)HP:0011842

Abnormality of adipose tissue

Occasional (5-29%)HP:0009124

Appendicular hypertonia

Occasional (5-29%)HP:0002509

Arc de cercle

Occasional (5-29%)HP:0002179

Ataxia

Occasional (5-29%)HP:0001251

Cerebral atrophy

Occasional (5-29%)HP:0002059

Cerebral white matter atrophy

Occasional (5-29%)HP:0012762

Cortical white matter abnormalities seen on MRI

Occasional (5-29%)HP:0002500

Decreased muscle movement

Occasional (5-29%)HP:0002375

Delayed myelination

Occasional (5-29%)HP:0012448

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Carbohydrate-deficient glycoprotein syndrome type I(parent)

Quick Facts

SNOMED CT: 733085004
UMLS CUI: C3150913
Fully Specified Name: Congenital disorder of glycosylation type 1p (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.