Syndromic X-linked intellectual disability 94
- Synonyms
- MENTAL RETARDATION, X-LINKED, SYNDROMIC 29; X-Linked Mental Retardation 94
Summary
Available tests
Clinical features
Help- Abnormality of head or neck
- Prominent supraorbital ridges
Prominent supraorbital ridges
- MedGen UID: 333982
- Concept ID: C1842060
- Finding: Finding
Abnormality of head or neck
- Prominent supraorbital ridges
- Abnormality of the eye
- Deeply set eye
Deeply set eye
- MedGen UID: 473112
- Concept ID: C0423224
- Finding: Finding
Abnormality of the eye
- Deeply set eye
- Abnormality of the musculoskeletal system
- Brachycephaly
Brachycephaly
- MedGen UID: 113165
- Concept ID: C0221356
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Distal muscle weakness
Distal muscle weakness
- MedGen UID: 140883
- Concept ID: C0427065
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypertonia
Hypertonia
- MedGen UID: 10132
- Concept ID: C0026826
- Finding: Finding
Abnormality of the musculoskeletal system
- Macrocephaly
Macrocephaly
- MedGen UID: 745757
- Concept ID: C2243051
- Finding: Finding
Abnormality of the musculoskeletal system
- Brachycephaly
- Abnormality of the nervous system
- Aggressive behavior
Aggressive behavior
- MedGen UID: 1375
- Concept ID: C0001807
- Finding: Individual Behavior
Abnormality of the nervous system
- Autism
Autism
- MedGen UID: 13966
- Concept ID: C0004352
- Finding: Mental or Behavioral Dysfunction
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
- Focal tonic seizure
Focal tonic seizure
- MedGen UID: 199867
- Concept ID: C0752324
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Frontal cortical atrophy
Frontal cortical atrophy
- MedGen UID: 870517
- Concept ID: C4024965
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Hyperreflexia
Hyperreflexia
- MedGen UID: 57738
- Concept ID: C0151889
- Finding: Finding
Abnormality of the nervous system
- Hyporeflexia
Hyporeflexia
- MedGen UID: 195967
- Concept ID: C0700078
- 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, severe
Intellectual disability, severe
- MedGen UID: 48638
- Concept ID: C0036857
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Interictal epileptiform activity
Interictal epileptiform activity
- MedGen UID: 869073
- Concept ID: C4023491
- Finding: Finding
Abnormality of the nervous system
- Limb tremor
Limb tremor
- MedGen UID: 115980
- Concept ID: C0235081
- Finding: Sign or Symptom
Abnormality of the nervous system
- Myoclonus
Myoclonus
- MedGen UID: 10234
- Concept ID: C0027066
- Finding: Finding
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Self-injurious behavior
Self-injurious behavior
- MedGen UID: 88371
- Concept ID: C0085271
- Finding: Individual Behavior
Abnormality of the nervous system
- Ventriculomegaly
Ventriculomegaly
- MedGen UID: 480553
- Concept ID: C3278923
- Finding: Finding
Abnormality of the nervous system
- Aggressive behavior
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Slender build
Slender build
- MedGen UID: 376828
- Concept ID: C1850573
- Finding: Finding
Growth abnormality
- Short stature
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