Trichothiodystrophy 3, photosensitive
- Synonyms
- Trichothiodystrophy, complementation group A
Summary
Available tests
Clinical tests (17 available)
Clinical features
Help- Abnormality of head or neck
- Carious teeth
Carious teeth
- MedGen UID: 8288
- Concept ID: C0011334
- Finding: Disease or Syndrome
Abnormality of head or neck
- Eclabion
Eclabion
- MedGen UID: 763344
- Concept ID: C3550430
- Finding: Finding
Abnormality of head or neck
- Ectropion
Ectropion
- MedGen UID: 4448
- Concept ID: C0013592
- Finding: Disease or Syndrome
Abnormality of head or neck
- Natal tooth
Natal tooth
- MedGen UID: 10268
- Concept ID: C0027443
- Finding: Finding
Abnormality of head or neck
- Carious teeth
- Abnormality of the digestive system
- Abdominal adhesions
Abdominal adhesions
- MedGen UID: 1708320
- Concept ID: C0549357
- Finding: Acquired Abnormality
Abnormality of the digestive system
- Congenital hypertrophic pyloric stenosis
Congenital hypertrophic pyloric stenosis
- MedGen UID: 196010
- Concept ID: C0700639
- Finding: Congenital Abnormality
Abnormality of the digestive system
- Feeding difficulties
Feeding difficulties
- MedGen UID: 65429
- Concept ID: C0232466
- Finding: Finding
Abnormality of the digestive system
- Meckel diverticulum
Meckel diverticulum
- MedGen UID: 9917
- Concept ID: C0025037
- Finding: Congenital Abnormality
Abnormality of the digestive system
- Abdominal adhesions
- Abnormality of the eye
- Cataract
Cataract
- MedGen UID: 39462
- Concept ID: C0086543
- Finding: Disease or Syndrome
Abnormality of the eye
- Developmental cataract
Developmental cataract
- MedGen UID: 3202
- Concept ID: C0009691
- Finding: Congenital Abnormality
Abnormality of the eye
- Hypotelorism
Hypotelorism
- MedGen UID: 96107
- Concept ID: C0424711
- Finding: Finding
Abnormality of the eye
- Microphthalmia
Microphthalmia
- MedGen UID: 10033
- Concept ID: C0026010
- Finding: Congenital Abnormality
Abnormality of the eye
- Cataract
- Abnormality of the genitourinary system
- Bilateral cryptorchidism
Bilateral cryptorchidism
- MedGen UID: 96568
- Concept ID: C0431663
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Bilateral cryptorchidism
- Abnormality of the immune system
- Increased circulating IgA level
Increased circulating IgA level
- MedGen UID: 66800
- Concept ID: C0239984
- Finding: Finding
Abnormality of the immune system
- Lymphopenia
Lymphopenia
- MedGen UID: 7418
- Concept ID: C0024312
- Finding: Disease or Syndrome
Abnormality of the immune system
- Neutropenia
Neutropenia
- MedGen UID: 163121
- Concept ID: C0853697
- Finding: Finding
Abnormality of the immune system
- Recurrent infections
Recurrent infections
- MedGen UID: 65998
- Concept ID: C0239998
- Finding: Finding
Abnormality of the immune system
- Increased circulating IgA level
- Abnormality of the integument
- Brittle hair
Brittle hair
- MedGen UID: 120480
- Concept ID: C0263490
- 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
- Cutaneous photosensitivity
Cutaneous photosensitivity
- MedGen UID: 87601
- Concept ID: C0349506
- Finding: Pathologic Function
Abnormality of the integument
- Ichthyosis
Ichthyosis
- MedGen UID: 7002
- Concept ID: C0020757
- Finding: Disease or Syndrome
Abnormality of the integument
- Tiger tail banding
Tiger tail banding
- MedGen UID: 892884
- Concept ID: C4073178
- Finding: Finding
Abnormality of the integument
- Trichorrhexis nodosa
Trichorrhexis nodosa
- MedGen UID: 82668
- Concept ID: C0263485
- Finding: Disease or Syndrome
Abnormality of the integument
- Brittle hair
- Abnormality of the musculoskeletal system
- Hypertonia
Hypertonia
- MedGen UID: 10132
- Concept ID: C0026826
- Finding: Finding
Abnormality of the musculoskeletal system
- Trigonocephaly
Trigonocephaly
- MedGen UID: 82713
- Concept ID: C0265535
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Hypertonia
- 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
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Delayed CNS myelination
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Hearing impairment
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Failure to thrive
- Neoplasm
- Neoplasm of the skin
Neoplasm of the skin
- MedGen UID: 19993
- Concept ID: C0037286
- Finding: Neoplastic Process
Neoplasm
- Neoplasm of the skin
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