Congenital disorder of glycosylation, type IIy
- Synonyms
- CDG IIy
Summary
Clinical features
Help- Abnormality of head or neck
- Narrow forehead
Narrow forehead
- MedGen UID: 326956
- Concept ID: C1839758
- Finding: Finding
Abnormality of head or neck
- Narrow forehead
- Abnormality of limbs
- Hip subluxation
Hip subluxation
- MedGen UID: 140946
- Concept ID: C0434785
- Finding: Injury or Poisoning
Abnormality of limbs
- Hip subluxation
- Abnormality of metabolism/homeostasis
- Type II transferrin isoform profile
Type II transferrin isoform profile
- MedGen UID: 892666
- Concept ID: C4021094
- Finding: Finding
Abnormality of metabolism/homeostasis
- Type II transferrin isoform profile
- Abnormality of the digestive system
- Malnutrition
Malnutrition
- MedGen UID: 56429
- Concept ID: C0162429
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Malnutrition
- Abnormality of the musculoskeletal system
- Brachycephaly
Brachycephaly
- MedGen UID: 113165
- Concept ID: C0221356
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Delayed skeletal maturation
Delayed skeletal maturation
- MedGen UID: 108148
- Concept ID: C0541764
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Reduced bone mineral density
Reduced bone mineral density
- MedGen UID: 393152
- Concept ID: C2674432
- Finding: Finding
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Brachycephaly
- Abnormality of the nervous system
- Absent speech
Absent speech
- MedGen UID: 340737
- Concept ID: C1854882
- Finding: Finding
Abnormality of the nervous system
- Atrophy/Degeneration affecting the brainstem
Atrophy/Degeneration affecting the brainstem
- MedGen UID: 870454
- Concept ID: C4024900
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Bilateral tonic-clonic seizure
Bilateral tonic-clonic seizure
- MedGen UID: 141670
- Concept ID: C0494475
- Finding: Sign or Symptom
Abnormality of the nervous system
- Cerebral cortical atrophy
Cerebral cortical atrophy
- MedGen UID: 1646740
- Concept ID: C4551583
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Corpus callosum, agenesis of
Corpus callosum, agenesis of
- MedGen UID: 104498
- Concept ID: C0175754
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Delayed CNS myelination
Delayed CNS myelination
- MedGen UID: 867393
- Concept ID: C4021758
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Delayed ability to sit
Delayed ability to sit
- MedGen UID: 1368737
- Concept ID: C4476710
- Finding: Finding
Abnormality of the nervous system
- Delayed ability to walk
Delayed ability to walk
- MedGen UID: 66034
- Concept ID: C0241726
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Sensorimotor neuropathy
Sensorimotor neuropathy
- MedGen UID: 207266
- Concept ID: C1112256
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Status epilepticus
Status epilepticus
- MedGen UID: 11586
- Concept ID: C0038220
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Thin corpus callosum
Thin corpus callosum
- MedGen UID: 1785336
- Concept ID: C5441562
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Ventriculomegaly
Ventriculomegaly
- MedGen UID: 480553
- Concept ID: C3278923
- Finding: Finding
Abnormality of the nervous system
- Absent speech
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