Autosomal recessive congenital ichthyosis 2
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (28 available)
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
- Everted lower lip vermilion
Everted lower lip vermilion
- MedGen UID: 344003
- Concept ID: C1853246
- Finding: Finding
Abnormality of head or neck
- Ectropion
- Abnormality of limbs
- Palmar hyperlinearity
Palmar hyperlinearity
- MedGen UID: 400466
- Concept ID: C1864168
- Finding: Finding
Abnormality of limbs
- Palmoplantar keratoderma
Palmoplantar keratoderma
- MedGen UID: 1635750
- Concept ID: C4551675
- Finding: Disease or Syndrome
Abnormality of limbs
- Short finger
Short finger
- MedGen UID: 334977
- Concept ID: C1844548
- Finding: Anatomical Abnormality
Abnormality of limbs
- Short toe
Short toe
- MedGen UID: 322858
- Concept ID: C1836195
- Finding: Finding
Abnormality of limbs
- Palmar hyperlinearity
- Abnormality of the genitourinary system
- External genital hypoplasia
External genital hypoplasia
- MedGen UID: 344478
- Concept ID: C1855333
- Finding: Finding
Abnormality of the genitourinary system
- External genital hypoplasia
- Abnormality of the integument
- Abnormal hair morphology
Abnormal hair morphology
- MedGen UID: 56381
- Concept ID: C0157733
- Finding: Finding
Abnormality of the integument
- Alopecia
Alopecia
- MedGen UID: 7982
- Concept ID: C0002170
- Finding: Finding
Abnormality of the integument
- Anhidrosis
Anhidrosis
- MedGen UID: 1550
- Concept ID: C0003028
- Finding: Disease or Syndrome
Abnormality of the integument
- Congenital ichthyosiform erythroderma
Congenital ichthyosiform erythroderma
- MedGen UID: 86936
- Concept ID: C0079583
- Finding: Disease or Syndrome
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
- Epidermal acanthosis
Epidermal acanthosis
- MedGen UID: 65136
- Concept ID: C0221270
- Finding: Finding
Abnormality of the integument
- Erythema
Erythema
- MedGen UID: 11999
- Concept ID: C0041834
- Finding: Disease or Syndrome
Abnormality of the integument
- Hypergranulosis
Hypergranulosis
- MedGen UID: 481177
- Concept ID: C3279547
- Finding: Finding
Abnormality of the integument
- Hyperkeratosis
Hyperkeratosis
- MedGen UID: 209030
- Concept ID: C0870082
- Finding: Disease or Syndrome
Abnormality of the integument
- Hypohidrosis
Hypohidrosis
- MedGen UID: 43796
- Concept ID: C0020620
- Finding: Disease or Syndrome
Abnormality of the integument
- Small nail
Small nail
- MedGen UID: 537942
- Concept ID: C0263523
- Finding: Finding
Abnormality of the integument
- Thin nail
Thin nail
- MedGen UID: 98073
- Concept ID: C0423823
- Finding: Finding
Abnormality of the integument
- Abnormal hair morphology
- Abnormality of the nervous system
- Intellectual disability, borderline
Intellectual disability, borderline
- MedGen UID: 507499
- Concept ID: C0006009
- Finding: Finding
Abnormality of the nervous system
- Paralysis
Paralysis
- MedGen UID: 105510
- Concept ID: C0522224
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability, borderline
- Growth abnormality
- Growth delay
Growth delay
- MedGen UID: 99124
- Concept ID: C0456070
- Finding: Pathologic Function
Growth abnormality
- Growth delay
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