Intellectual developmental disorder, autosomal recessive 71
- Synonyms
- MENTAL RETARDATION, AUTOSOMAL RECESSIVE 71
Clinical features
Help- Abnormality of head or neck
- Increased overbite
Increased overbite
- MedGen UID: 539656
- Concept ID: C0266063
- Finding: Disease or Syndrome
Abnormality of head or neck
- Long face
Long face
- MedGen UID: 324419
- Concept ID: C1836047
- Finding: Finding
Abnormality of head or neck
- Increased overbite
- Abnormality of the cardiovascular system
- Ventricular septal defect
Ventricular septal defect
- MedGen UID: 42366
- Concept ID: C0018818
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Ventricular septal defect
- Abnormality of the digestive system
- Prune belly syndrome
Prune belly syndrome
- MedGen UID: 18718
- Concept ID: C0033770
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Prune belly syndrome
- Abnormality of the eye
- Abnormally large globe
Abnormally large globe
- MedGen UID: 344595
- Concept ID: C1855852
- Finding: Finding
Abnormality of the eye
- Deeply set eye
Deeply set eye
- MedGen UID: 473112
- Concept ID: C0423224
- Finding: Finding
Abnormality of the eye
- Abnormally large globe
- Abnormality of the genitourinary system
- Cryptorchidism
Cryptorchidism
- MedGen UID: 8192
- Concept ID: C0010417
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Micropenis
Micropenis
- MedGen UID: 1633603
- Concept ID: C4551492
- Finding: Congenital Abnormality
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
- Cryptorchidism
- Abnormality of the musculoskeletal system
- Macrocephaly
Macrocephaly
- MedGen UID: 745757
- Concept ID: C2243051
- Finding: Finding
Abnormality of the musculoskeletal system
- Macrocephaly
- Abnormality of the nervous system
- Arachnoid granulation
Arachnoid granulation
- MedGen UID: 65314
- Concept ID: C0228130
- Finding: Body Part, Organ, or Organ Component
Abnormality of the nervous system
- Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder
- MedGen UID: 220387
- Concept ID: C1263846
- Finding: Mental or Behavioral Dysfunction
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
- Motor stereotypies
Motor stereotypies
- MedGen UID: 21318
- Concept ID: C0038271
- Finding: Individual Behavior
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Arachnoid granulation
- Ear malformation
- Macrotia
Macrotia
- MedGen UID: 488785
- Concept ID: C0152421
- Finding: Congenital Abnormality
Ear malformation
- Macrotia
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