Macrocephaly, acquired, with impaired intellectual development
- Synonyms
- MACROCEPHALY, ACQUIRED, WITH MENTAL RETARDATION
Available tests
Clinical tests (3 available)
Genes See tests for all associated and related genes
Also known as: CTF, HMGIC/NFIB, MACID, NF-I/B, NF1-B, NFI-B, NFI-RED, NFIB2, NFIB3, NFIB
Summary: nuclear factor I B
Clinical features
Help- Abnormality of head or neck
- Anteverted nares
Anteverted nares
- MedGen UID: 326648
- Concept ID: C1840077
- Finding: Finding
Abnormality of head or neck
- Blepharophimosis
Blepharophimosis
- MedGen UID: 2670
- Concept ID: C0005744
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Downslanted palpebral fissures
Downslanted palpebral fissures
- MedGen UID: 98391
- Concept ID: C0423110
- Finding: Finding
Abnormality of head or neck
- High forehead
High forehead
- MedGen UID: 65991
- Concept ID: C0239676
- Finding: Finding
Abnormality of head or neck
- Long face
Long face
- MedGen UID: 324419
- Concept ID: C1836047
- Finding: Finding
Abnormality of head or neck
- Long philtrum
Long philtrum
- MedGen UID: 351278
- Concept ID: C1865014
- Finding: Finding
Abnormality of head or neck
- Narrow nasal bridge
Narrow nasal bridge
- MedGen UID: 1641596
- Concept ID: C4551564
- Finding: Finding
Abnormality of head or neck
- Sparse eyebrow
Sparse eyebrow
- MedGen UID: 371332
- Concept ID: C1832446
- Finding: Finding
Abnormality of head or neck
- Anteverted nares
- Abnormality of the genitourinary system
- Unilateral cryptorchidism
Unilateral cryptorchidism
- MedGen UID: 98467
- Concept ID: C0431664
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Unilateral cryptorchidism
- Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Macrocephaly
Macrocephaly
- MedGen UID: 745757
- Concept ID: C2243051
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
- Abnormality of the nervous system
- Aggressive behavior
Aggressive behavior
- MedGen UID: 1375
- Concept ID: C0001807
- Finding: Individual Behavior
Abnormality of the nervous system
- Anxiety
Anxiety
- MedGen UID: 1613
- Concept ID: C0003467
- Finding: Finding
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
- Autism
Autism
- MedGen UID: 13966
- Concept ID: C0004352
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Corpus callosum, agenesis of
Corpus callosum, agenesis of
- MedGen UID: 104498
- Concept ID: C0175754
- Finding: Congenital Abnormality
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
- Impulsivity
Impulsivity
- MedGen UID: 43850
- Concept ID: C0021125
- Finding: Mental or Behavioral Dysfunction
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 delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Probst bundles
Probst bundles
- MedGen UID: 1814227
- Concept ID: C5676654
- Finding: Finding
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Thin corpus callosum
Thin corpus callosum
- MedGen UID: 1785336
- Concept ID: C5441562
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Ventriculomegaly
Ventriculomegaly
- MedGen UID: 480553
- Concept ID: C3278923
- Finding: Finding
Abnormality of the nervous system
- Aggressive behavior
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