X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
- Synonyms
- DEAFNESS, X-LINKED 7
- Modes of inheritance
- X-linked recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (3 available)
Clinical features
Help- Abnormality of head or neck
- Telecanthus
Telecanthus
- MedGen UID: 140836
- Concept ID: C0423113
- Finding: Finding
Abnormality of head or neck
- Thick eyebrow
Thick eyebrow
- MedGen UID: 377914
- Concept ID: C1853487
- Finding: Finding
Abnormality of head or neck
- Wide nasal bridge
Wide nasal bridge
- MedGen UID: 341441
- Concept ID: C1849367
- Finding: Finding
Abnormality of head or neck
- Telecanthus
- Abnormality of the eye
- Ptosis
Ptosis
- MedGen UID: 2287
- Concept ID: C0005745
- Finding: Disease or Syndrome
Abnormality of the eye
- Unilateral microphthalmos
Unilateral microphthalmos
- MedGen UID: 768664
- Concept ID: C3640024
- Finding: Disease or Syndrome
Abnormality of the eye
- Ptosis
- 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
- Global developmental delay
- Ear malformation
- Atresia of the external auditory canal
Atresia of the external auditory canal
- MedGen UID: 78613
- Concept ID: C0266597
- Finding: Congenital Abnormality
Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Posteriorly rotated ears
Posteriorly rotated ears
- MedGen UID: 96566
- Concept ID: C0431478
- Finding: Congenital Abnormality
Ear malformation
- Stenosis of the external auditory canal
Stenosis of the external auditory canal
- MedGen UID: 140758
- Concept ID: C0395837
- Finding: Finding
Ear malformation
- Atresia of the external auditory canal
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