Boudhina Yedes Khiari syndrome

Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions

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Disease Context: Research Results

Nervous System Diseases: 14178
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Growth Disorders: 2264
    - Boudhina Yedes Khiari syndrome
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Neurobehavioral Manifestations: 1586
      - Intellectual Disability: 8035
        Boudhina Yedes Khiari syndrome
    - Sensation Disorders: 117
      - Hearing Disorders: 325
        Hearing Loss: 12265
        Sensorineural Hearing Loss: 3974
        Boudhina Yedes Khiari syndrome
Otorhinolaryngologic Diseases: 203
- Ear Diseases: 261
  - Hearing Disorders: 325
    - Hearing Loss: 12265
      - Sensorineural Hearing Loss: 3974
        Boudhina Yedes Khiari syndrome
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Intellectual Disability: 8035
    - Boudhina Yedes Khiari syndrome
Mental Disorders: 24177
- Neurodevelopmental Disorders: 3095
  - Intellectual Disability: 8035
    - Boudhina Yedes Khiari syndrome
Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Microcephaly: 1471
      - Boudhina Yedes Khiari syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Craniofacial Abnormalities: 203
      - Microcephaly: 1471
        Boudhina Yedes Khiari syndrome
  - Nervous System Malformations: 35
    - Malformations of Cortical Development: 376
      - Group I Malformations of Cortical Development
        Microcephaly: 1471
        Boudhina Yedes Khiari syndrome
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Boudhina Yedes Khiari syndrome