Developmental delay, language impairment, and ocular abnormalities
Summary
Clinical features
Help- Abnormality of the cardiovascular system
- Pulmonic stenosis
Pulmonic stenosis
- MedGen UID: 408291
- Concept ID: C1956257
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Pulmonic stenosis
- Abnormality of the eye
- Accommodative esotropia
Accommodative esotropia
- MedGen UID: 102331
- Concept ID: C0155336
- Finding: Disease or Syndrome
Abnormality of the eye
- Cerebral visual impairment
Cerebral visual impairment
- MedGen UID: 890568
- Concept ID: C4048268
- Finding: Pathologic Function
Abnormality of the eye
- Developmental cataract
Developmental cataract
- MedGen UID: 3202
- Concept ID: C0009691
- Finding: Congenital Abnormality
Abnormality of the eye
- Exotropia
Exotropia
- MedGen UID: 4613
- Concept ID: C0015310
- Finding: Disease or Syndrome
Abnormality of the eye
- Myopic astigmatism
Myopic astigmatism
- MedGen UID: 748561
- Concept ID: C2363771
- Finding: Disease or Syndrome
Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Accommodative esotropia
- Abnormality of the genitourinary system
- Hydronephrosis
Hydronephrosis
- MedGen UID: 42531
- Concept ID: C0020295
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Hydronephrosis
- Abnormality of the integument
- Facial telangiectasia
Facial telangiectasia
- MedGen UID: 488948
- Concept ID: C0858684
- Finding: Finding
Abnormality of the integument
- Facial telangiectasia
- Abnormality of the musculoskeletal system
- Contracture of the proximal interphalangeal joint of the 5th finger
Contracture of the proximal interphalangeal joint of the 5th finger
- MedGen UID: 767526
- Concept ID: C3554612
- Finding: Finding
Abnormality of the musculoskeletal system
- Inguinal hernia
Inguinal hernia
- MedGen UID: 6817
- Concept ID: C0019294
- Finding: Finding
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
- Contracture of the proximal interphalangeal joint of the 5th finger
- Abnormality of the nervous system
- Aggressive behavior
Aggressive behavior
- MedGen UID: 1375
- Concept ID: C0001807
- Finding: Individual Behavior
Abnormality of the nervous system
- Apraxia
Apraxia
- MedGen UID: 8166
- Concept ID: C0003635
- Finding: Mental or Behavioral Dysfunction
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
- Delayed speech and language development
Delayed speech and language development
- MedGen UID: 105318
- Concept ID: C0454644
- Finding: Finding
Abnormality of the nervous system
- Frequent temper tantrums
Frequent temper tantrums
- MedGen UID: 1369702
- Concept ID: C4476626
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Hyperactivity
Hyperactivity
- MedGen UID: 98406
- Concept ID: C0424295
- Finding: Finding
Abnormality of the nervous system
- Impulsivity
Impulsivity
- MedGen UID: 43850
- Concept ID: C0021125
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Intellectual disability, mild
Intellectual disability, mild
- MedGen UID: 10044
- Concept ID: C0026106
- 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
- Motor stereotypies
Motor stereotypies
- MedGen UID: 21318
- Concept ID: C0038271
- Finding: Individual Behavior
Abnormality of the nervous system
- Myelomeningocele
Myelomeningocele
- MedGen UID: 7538
- Concept ID: C0025312
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Tethered cord
Tethered cord
- MedGen UID: 36387
- Concept ID: C0080218
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Aggressive behavior
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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