Digitorenocerebral Syndrome

A rare hereditary disorder associated with mutations in the TBC1D24 gene and characterized by MICROCEPHALY and facial abnormalities, SENSORINEURAL DEAFNESS, blindness and eye abnormalities, small or absent distal fingers and toes, seizures, and intellectual disability. Heart and kidney defects may also be present. OMIM: 220500

Also Known As:

Brachydactyly due to Absence of Distal Phalanges; DOOR Syndrome; Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome; Eronen Syndrome

Musculoskeletal Diseases: 751
- Hand Deformities: 72
  - Congenital Hand Deformities: 2
    - Digitorenocerebral Syndrome: 7
- Musculoskeletal Abnormalities: 46
  - Craniofacial Abnormalities: 208
    - Digitorenocerebral Syndrome: 7
  - Congenital Limb Deformities: 8
    - Congenital Upper Extremity Deformities
      - Congenital Hand Deformities: 2
        Digitorenocerebral Syndrome: 7
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Musculoskeletal Abnormalities: 46
    - Craniofacial Abnormalities: 208
      - Digitorenocerebral Syndrome: 7
    - Congenital Limb Deformities: 8
      - Congenital Upper Extremity Deformities
        Congenital Hand Deformities: 2
        Digitorenocerebral Syndrome: 7
Otorhinolaryngologic Diseases: 204
- Ear Diseases: 267
  - Hearing Disorders: 329
    - Hearing Loss: 12667
      - Sensorineural Hearing Loss: 4083
        Digitorenocerebral Syndrome: 7
Nervous System Diseases: 14737
- Neurologic Manifestations: 7223
  - Neurobehavioral Manifestations: 1632
    - Intellectual Disability: 8222
      - Digitorenocerebral Syndrome: 7
  - Sensation Disorders: 123
    - Hearing Disorders: 329
      - Hearing Loss: 12667
        Sensorineural Hearing Loss: 4083
        Digitorenocerebral Syndrome: 7
Signs and Symptoms Pathological Conditions
- Anatomical Pathological Conditions
  - Malformed Nails: 56
    - Digitorenocerebral Syndrome: 7
- Signs and Symptoms
  - Neurologic Manifestations: 7223
    - Neurobehavioral Manifestations: 1632
      - Intellectual Disability: 8222
        Digitorenocerebral Syndrome: 7
    - Sensation Disorders: 123
      - Hearing Disorders: 329
        Hearing Loss: 12667
        Sensorineural Hearing Loss: 4083
        Digitorenocerebral Syndrome: 7
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1632
  - Intellectual Disability: 8222
    - Digitorenocerebral Syndrome: 7
Mental Disorders: 25040
- Neurodevelopmental Disorders: 3318
  - Intellectual Disability: 8222
    - Digitorenocerebral Syndrome: 7

Kathy Culver Selected Research

Kathy Culver Research Topics

Disease

Drug/Important Bio-Agent (IBA)