Aniridia-renal agenesis-psychomotor retardation syndrome
- Synonyms
- Aniridia partial with unilateral renal agenesis and psychomotor retardation; Aniridia renal agenesis psychomotor retardation
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Clinical features
Help- Abnormality of head or neck
- Telecanthus
Telecanthus
- MedGen UID: 140836
- Concept ID: C0423113
- Finding: Finding
Abnormality of head or neck
- Telecanthus
- Abnormality of the eye
- Congenital aniridia
Congenital aniridia
- MedGen UID: 1941
- Concept ID: C0003076
- Finding: Congenital Abnormality
Abnormality of the eye
- Glaucoma of childhood
Glaucoma of childhood
- MedGen UID: 453382
- Concept ID: C2981140
- Finding: Disease or Syndrome
Abnormality of the eye
- Congenital aniridia
- Abnormality of the genitourinary system
- Unilateral renal agenesis
Unilateral renal agenesis
- MedGen UID: 75607
- Concept ID: C0266294
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Unilateral renal agenesis
- Abnormality of the musculoskeletal system
- Frontal bossing
Frontal bossing
- MedGen UID: 67453
- Concept ID: C0221354
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Frontal bossing
- 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
- Intellectual disability
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