Intellectual developmental disorder, X-linked 112
Summary
Clinical features
Help- Abnormality of limbs
- Madelung deformity
Madelung deformity
- MedGen UID: 57537
- Concept ID: C0152441
- Finding: Congenital Abnormality
Abnormality of limbs
- Madelung deformity
- Abnormality of metabolism/homeostasis
- Heat intolerance
Heat intolerance
- MedGen UID: 66659
- Concept ID: C0231274
- Finding: Pathologic Function
Abnormality of metabolism/homeostasis
- Heat intolerance
- Abnormality of the cardiovascular system
- Abnormal heart morphology
Abnormal heart morphology
- MedGen UID: 6748
- Concept ID: C0018798
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Bicuspid aortic valve
Bicuspid aortic valve
- MedGen UID: 57436
- Concept ID: C0149630
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Right aortic arch
Right aortic arch
- MedGen UID: 48474
- Concept ID: C0035615
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Abnormal heart morphology
- Abnormality of the digestive system
- Constipation
Constipation
- MedGen UID: 1101
- Concept ID: C0009806
- Finding: Sign or Symptom
Abnormality of the digestive system
- Gastroesophageal reflux
Gastroesophageal reflux
- MedGen UID: 1368658
- Concept ID: C4317146
- Finding: Finding
Abnormality of the digestive system
- Gastrointestinal dysmotility
Gastrointestinal dysmotility
- MedGen UID: 324638
- Concept ID: C1836923
- Finding: Finding
Abnormality of the digestive system
- Pancreatic cysts
Pancreatic cysts
- MedGen UID: 45293
- Concept ID: C0030283
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Volvulus
Volvulus
- MedGen UID: 21892
- Concept ID: C0042961
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Constipation
- Abnormality of the eye
- Myopia
Myopia
- MedGen UID: 44558
- Concept ID: C0027092
- Finding: Disease or Syndrome
Abnormality of the eye
- Retinal disorder
Retinal disorder
- MedGen UID: 11209
- Concept ID: C0035309
- Finding: Disease or Syndrome
Abnormality of the eye
- Myopia
- Abnormality of the genitourinary system
- Ambiguous genitalia
Ambiguous genitalia
- MedGen UID: 78596
- Concept ID: C0266362
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Cryptorchidism
Cryptorchidism
- MedGen UID: 8192
- Concept ID: C0010417
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Dilatation of the renal pelvis
Dilatation of the renal pelvis
- MedGen UID: 574571
- Concept ID: C0341676
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Ectopic kidney
Ectopic kidney
- MedGen UID: 68661
- Concept ID: C0238207
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Enuresis
Enuresis
- MedGen UID: 8649
- Concept ID: C0014394
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Horseshoe kidney
Horseshoe kidney
- MedGen UID: 65140
- Concept ID: C0221353
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Hypospadias
Hypospadias
- MedGen UID: 163083
- Concept ID: C0848558
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Nocturnal enuresis
Nocturnal enuresis
- MedGen UID: 124355
- Concept ID: C0270327
- Finding: Mental or Behavioral Dysfunction
Abnormality of the genitourinary system
- Renal cyst
Renal cyst
- MedGen UID: 854361
- Concept ID: C3887499
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Vesicoureteral reflux
Vesicoureteral reflux
- MedGen UID: 21852
- Concept ID: C0042580
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Ambiguous genitalia
- Abnormality of the immune system
- Pyelonephritis
Pyelonephritis
- MedGen UID: 19590
- Concept ID: C0034186
- Finding: Disease or Syndrome
Abnormality of the immune system
- Pyelonephritis
- Abnormality of the musculoskeletal system
- Joint hypermobility
Joint hypermobility
- MedGen UID: 336793
- Concept ID: C1844820
- Finding: Finding
Abnormality of the musculoskeletal system
- Kyphoscoliosis
Kyphoscoliosis
- MedGen UID: 154361
- Concept ID: C0575158
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Kyphosis
Kyphosis
- MedGen UID: 44042
- Concept ID: C0022821
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Joint hypermobility
- 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
- Atypical behavior
Atypical behavior
- MedGen UID: 14048
- Concept ID: C0004941
- Finding: Sign or Symptom
Abnormality of the nervous system
- Autistic behavior
Autistic behavior
- MedGen UID: 163547
- Concept ID: C0856975
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Delayed speech and language development
Delayed speech and language development
- MedGen UID: 105318
- Concept ID: C0454644
- 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
- Intellectual disability, moderate
Intellectual disability, moderate
- MedGen UID: 7680
- Concept ID: C0026351
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Sleep abnormality
Sleep abnormality
- MedGen UID: 52372
- Concept ID: C0037317
- Finding: Finding
Abnormality of the nervous system
- Attention deficit hyperactivity disorder
- Constitutional symptom
- Ear malformation
- Cupped ear
Cupped ear
- MedGen UID: 335186
- Concept ID: C1845447
- Finding: Congenital Abnormality
Ear malformation
- Cupped ear
- Growth abnormality
- Mild short stature
Mild short stature
- MedGen UID: 461427
- Concept ID: C3150077
- Finding: Finding
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Mild short stature
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