Autosomal recessive congenital ichthyosis 4A
- Synonyms
- Ichthyosis congenita IIB; Lamellar ichthyosis, type 2
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (28 available)
Genes See tests for all associated and related genes
Also known as: ARCI4A, ARCI4B, ICR2B, LI2, ABCA12
Summary: ATP binding cassette subfamily A member 12
Clinical features
Help- Abnormality of head or neck
- Ectropion
Ectropion
- MedGen UID: 4448
- Concept ID: C0013592
- Finding: Disease or Syndrome
Abnormality of head or neck
- Ectropion
- Abnormality of limbs
- Clubbing
Clubbing
- MedGen UID: 57692
- Concept ID: C0149651
- Finding: Anatomical Abnormality
Abnormality of limbs
- Palmoplantar keratoderma
Palmoplantar keratoderma
- MedGen UID: 1635750
- Concept ID: C4551675
- Finding: Disease or Syndrome
Abnormality of limbs
- Clubbing
- Abnormality of the digestive system
- Hepatosplenomegaly
Hepatosplenomegaly
- MedGen UID: 9225
- Concept ID: C0019214
- Finding: Sign or Symptom
Abnormality of the digestive system
- Hepatosplenomegaly
- Abnormality of the integument
- Congenital nonbullous ichthyosiform erythroderma
Congenital nonbullous ichthyosiform erythroderma
- MedGen UID: 38180
- Concept ID: C0079154
- Finding: Disease or Syndrome
Abnormality of the integument
- Leukonychia
Leukonychia
- MedGen UID: 68698
- Concept ID: C0240182
- Finding: Finding
Abnormality of the integument
- Congenital nonbullous ichthyosiform erythroderma
- Abnormality of the nervous system
- Spastic paraplegia
Spastic paraplegia
- MedGen UID: 20882
- Concept ID: C0037772
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Spastic paraplegia
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