Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
Summary
Genes See tests for all associated and related genes
Also known as: NBCn2, NCBE, SLC4A10
Summary: solute carrier family 4 member 10
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
- 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
- Mandibular prognathia
Mandibular prognathia
- MedGen UID: 98316
- Concept ID: C0399526
- Finding: Finding
Abnormality of head or neck
- Tented upper lip vermilion
Tented upper lip vermilion
- MedGen UID: 326574
- Concept ID: C1839767
- Finding: Finding
Abnormality of head or neck
- Wide nasal bridge
Wide nasal bridge
- MedGen UID: 341441
- Concept ID: C1849367
- Finding: Finding
Abnormality of head or neck
- Anteverted nares
- Abnormality of limbs
- Ankle contracture
Ankle contracture
- MedGen UID: 575402
- Concept ID: C0343148
- Finding: Acquired Abnormality
Abnormality of limbs
- Coxa vara
Coxa vara
- MedGen UID: 1790477
- Concept ID: C5551440
- Finding: Anatomical Abnormality
Abnormality of limbs
- Tapered finger
Tapered finger
- MedGen UID: 98098
- Concept ID: C0426886
- Finding: Finding
Abnormality of limbs
- Ankle contracture
- Abnormality of the breast
- Inversion of nipple
Inversion of nipple
- MedGen UID: 82844
- Concept ID: C0269269
- Finding: Anatomical Abnormality
Abnormality of the breast
- Inversion of nipple
- Abnormality of the eye
- Hypotelorism
Hypotelorism
- MedGen UID: 96107
- Concept ID: C0424711
- Finding: Finding
Abnormality of the eye
- Visual impairment
Visual impairment
- MedGen UID: 777085
- Concept ID: C3665347
- Finding: Finding
Abnormality of the eye
- Hypotelorism
- Abnormality of the integument
- Long eyelashes
Long eyelashes
- MedGen UID: 342955
- Concept ID: C1853738
- Finding: Finding
Abnormality of the integument
- Preauricular skin tag
Preauricular skin tag
- MedGen UID: 395989
- Concept ID: C1860816
- Finding: Finding
Abnormality of the integument
- Synophrys
Synophrys
- MedGen UID: 98132
- Concept ID: C0431447
- Finding: Congenital Abnormality
Abnormality of the integument
- Long eyelashes
- Abnormality of the musculoskeletal system
- Appendicular hypotonia
Appendicular hypotonia
- MedGen UID: 868520
- Concept ID: C4022919
- Finding: Finding
Abnormality of the musculoskeletal system
- Axial hypotonia
Axial hypotonia
- MedGen UID: 342959
- Concept ID: C1853743
- Finding: Finding
Abnormality of the musculoskeletal system
- Craniosynostosis 4
Craniosynostosis 4
- MedGen UID: 322167
- Concept ID: C1833340
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Prominent metopic ridge
Prominent metopic ridge
- MedGen UID: 387953
- Concept ID: C1857949
- Finding: Finding
Abnormality of the musculoskeletal system
- Retrognathia
Retrognathia
- MedGen UID: 19766
- Concept ID: C0035353
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Scarring
Scarring
- MedGen UID: 3093
- Concept ID: C0008767
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Appendicular hypotonia
- Abnormality of the nervous system
- Absent speech
Absent speech
- MedGen UID: 340737
- Concept ID: C1854882
- Finding: Finding
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
- Appendicular spasticity
Appendicular spasticity
- MedGen UID: 937224
- Concept ID: C4313257
- Finding: Finding
Abnormality of the nervous system
- Bilateral tonic-clonic seizure with generalized onset
Bilateral tonic-clonic seizure with generalized onset
- MedGen UID: 1368929
- Concept ID: C4476643
- Finding: Sign or Symptom
Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Chorea
Chorea
- MedGen UID: 3420
- Concept ID: C0008489
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Developmental regression
Developmental regression
- MedGen UID: 324613
- Concept ID: C1836830
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Gray matter heterotopia
Gray matter heterotopia
- MedGen UID: 452349
- Concept ID: C0266491
- Finding: Finding
Abnormality of the nervous system
- Hyperactivity
Hyperactivity
- MedGen UID: 98406
- Concept ID: C0424295
- Finding: Finding
Abnormality of the nervous system
- Hyperreflexia
Hyperreflexia
- MedGen UID: 57738
- Concept ID: C0151889
- Finding: Finding
Abnormality of the nervous system
- Hypoplasia of the corpus callosum
Hypoplasia of the corpus callosum
- MedGen UID: 138005
- Concept ID: C0344482
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Recurrent hand flapping
Recurrent hand flapping
- MedGen UID: 867996
- Concept ID: C4022387
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Short corpus callosum
Short corpus callosum
- MedGen UID: 867519
- Concept ID: C4021902
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Slit-like lateral ventricle
Slit-like lateral ventricle
- MedGen UID: 1052552
- Concept ID: CN378341
- Finding: Finding
Abnormality of the nervous system
- Thick corpus callosum
Thick corpus callosum
- MedGen UID: 371993
- Concept ID: C1835194
- Finding: Finding
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
- Absent speech
- Abnormality of the respiratory system
- Recurrent lower respiratory tract infections
Recurrent lower respiratory tract infections
- MedGen UID: 756211
- Concept ID: C3163798
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Recurrent upper respiratory tract infections
Recurrent upper respiratory tract infections
- MedGen UID: 154380
- Concept ID: C0581381
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Recurrent lower respiratory tract infections
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Macrotia
Macrotia
- MedGen UID: 488785
- Concept ID: C0152421
- Finding: Congenital Abnormality
Ear malformation
- Posteriorly rotated ears
Posteriorly rotated ears
- MedGen UID: 96566
- Concept ID: C0431478
- Finding: Congenital Abnormality
Ear malformation
- Protruding ear
Protruding ear
- MedGen UID: 343309
- Concept ID: C1855285
- Finding: Finding
Ear malformation
- Hearing impairment
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Small for gestational age
Small for gestational age
- MedGen UID: 65920
- Concept ID: C0235991
- Finding: Finding
Growth abnormality
- Failure to thrive
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