Cortical dysplasia, complex, with other brain malformations 11

Summary

Complex cortical dysplasia with other brain malformations-11 (CDCBM11) is an autosomal recessive disorder characterized by dilated ventricles and reduced white matter and associated with axonal developmental defects (Qian et al., 2022). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039). [from OMIM]

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

KIF26A
1 test
Also known as: CDCBM11, KIF26A
Summary: kinesin family member 26A

Imported from Human Phenotype Ontology (HPO)

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Abnormality of head or neck
- High palate
  High palate
  - MedGen UID: 66814
  - Concept ID: C0240635
  - Finding: Congenital Abnormality
  Abnormality of head or neck
  See: Feature record | Search on this feature
- High, narrow palate
  High, narrow palate
  - MedGen UID: 324787
  - Concept ID: C1837404
  - Finding: Finding
  Abnormality of head or neck
  See: Feature record | Search on this feature
- Long philtrum
  Long philtrum
  - MedGen UID: 351278
  - Concept ID: C1865014
  - Finding: Finding
  Abnormality of head or neck
  See: Feature record | Search on this feature
- Narrow forehead
  Narrow forehead
  - MedGen UID: 326956
  - Concept ID: C1839758
  - Finding: Finding
  Abnormality of head or neck
  See: Feature record | Search on this feature
- Narrow palpebral fissure
  Narrow palpebral fissure
  - MedGen UID: 382506
  - Concept ID: C2675021
  - Finding: Finding
  Abnormality of head or neck
  See: Feature record | Search on this feature
- Short neck
  Short neck
  - MedGen UID: 99267
  - Concept ID: C0521525
  - Finding: Finding
  Abnormality of head or neck
  See: Feature record | Search on this feature
- Short philtrum
  Short philtrum
  - MedGen UID: 350006
  - Concept ID: C1861324
  - Finding: Finding
  Abnormality of head or neck
  See: Feature record | Search on this feature
- Smooth philtrum
  Smooth philtrum
  - MedGen UID: 222980
  - Concept ID: C1142533
  - Finding: Finding
  Abnormality of head or neck
  See: Feature record | Search on this feature
Abnormality of limbs
- Brachydactyly
  Brachydactyly
  - MedGen UID: 67454
  - Concept ID: C0221357
  - Finding: Congenital Abnormality
  Abnormality of limbs
  See: Feature record | Search on this feature
Abnormality of prenatal development or birth
- Absence of stomach bubble on fetal sonography
  Absence of stomach bubble on fetal sonography
  - MedGen UID: 869203
  - Concept ID: C4023625
  - Finding: Finding
  Abnormality of prenatal development or birth
  See: Feature record | Search on this feature
Abnormality of the digestive system
- Ileus
  Ileus
  - MedGen UID: 219874
  - Concept ID: C1258215
  - Finding: Disease or Syndrome
  Abnormality of the digestive system
  See: Feature record | Search on this feature
Abnormality of the eye
- Hypotelorism
  Hypotelorism
  - MedGen UID: 96107
  - Concept ID: C0424711
  - Finding: Finding
  Abnormality of the eye
  See: Feature record | Search on this feature
Abnormality of the integument
- Synophrys
  Synophrys
  - MedGen UID: 98132
  - Concept ID: C0431447
  - Finding: Congenital Abnormality
  Abnormality of the integument
  See: Feature record | Search on this feature
Abnormality of the musculoskeletal system
- Congenital contracture
  Congenital contracture
  - MedGen UID: 83066
  - Concept ID: C0332878
  - Finding: Congenital Abnormality
  Abnormality of the musculoskeletal system
  See: Feature record | Search on this feature
- Hypotonia
  Hypotonia
  - MedGen UID: 10133
  - Concept ID: C0026827
  - Finding: Finding
  Abnormality of the musculoskeletal system
  See: Feature record | Search on this feature
- Micrognathia
  Micrognathia
  - MedGen UID: 44428
  - Concept ID: C0025990
  - Finding: Congenital Abnormality
  Abnormality of the musculoskeletal system
  See: Feature record | Search on this feature
- Retrognathia
  Retrognathia
  - MedGen UID: 19766
  - Concept ID: C0035353
  - Finding: Congenital Abnormality
  Abnormality of the musculoskeletal system
  See: Feature record | Search on this feature
Abnormality of the nervous system
- Cerebral atrophy
  Cerebral atrophy
  - MedGen UID: 116012
  - Concept ID: C0235946
  - Finding: Disease or Syndrome
  Abnormality of the nervous system
  See: Feature record | Search on this feature
- Colpocephaly
  Colpocephaly
  - MedGen UID: 98131
  - Concept ID: C0431384
  - Finding: Congenital Abnormality
  Abnormality of the nervous system
  See: Feature record | Search on this feature
- Corpus callosum, agenesis of
  Corpus callosum, agenesis of
  - MedGen UID: 104498
  - Concept ID: C0175754
  - Finding: Congenital Abnormality
  Abnormality of the nervous system
  See: Feature record | Search on this feature
- Global developmental delay
  Global developmental delay
  - MedGen UID: 107838
  - Concept ID: C0557874
  - Finding: Finding
  Abnormality of the nervous system
  See: Feature record | Search on this feature
- Hydrocephalus
  Hydrocephalus
  - MedGen UID: 9335
  - Concept ID: C0020255
  - Finding: Disease or Syndrome
  Abnormality of the nervous system
  See: Feature record | Search on this feature
- Hypoplasia of the corpus callosum
  Hypoplasia of the corpus callosum
  - MedGen UID: 138005
  - Concept ID: C0344482
  - Finding: Congenital Abnormality
  Abnormality of the nervous system
  See: Feature record | Search on this feature
- Polymicrogyria
  Polymicrogyria
  - MedGen UID: 78605
  - Concept ID: C0266464
  - Finding: Congenital Abnormality
  Abnormality of the nervous system
  See: Feature record | Search on this feature
- Reduced cerebral white matter volume
  Reduced cerebral white matter volume
  - MedGen UID: 1815057
  - Concept ID: C5706151
  - Finding: Finding
  Abnormality of the nervous system
  See: Feature record | Search on this feature
- Schizencephaly
  Schizencephaly
  - MedGen UID: 78606
  - Concept ID: C0266484
  - Finding: Congenital Abnormality
  Abnormality of the nervous system
  See: Feature record | Search on this feature
- Seizure
  Seizure
  - MedGen UID: 20693
  - Concept ID: C0036572
  - Finding: Sign or Symptom
  Abnormality of the nervous system
  See: Feature record | Search on this feature
- Ventriculomegaly
  Ventriculomegaly
  - MedGen UID: 480553
  - Concept ID: C3278923
  - Finding: Finding
  Abnormality of the nervous system
  See: Feature record | Search on this feature
Ear malformation
- Low-set ears
  Low-set ears
  - MedGen UID: 65980
  - Concept ID: C0239234
  - Finding: Congenital Abnormality
  Ear malformation
  See: Feature record | Search on this feature
Growth abnormality
- Growth delay
  Growth delay
  - MedGen UID: 99124
  - Concept ID: C0456070
  - Finding: Pathologic Function
  Growth abnormality
  See: Feature record | Search on this feature

Reviews

Clinical resources

Molecular resources

Consumer resources

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Cortical dysplasia, complex, with other brain malformations 11

Summary

Genes See tests for all associated and related genes

KIF26A

Clinical features

High palate

High, narrow palate

Long philtrum

Narrow forehead

Narrow palpebral fissure

Short neck

Short philtrum

Smooth philtrum

Brachydactyly

Absence of stomach bubble on fetal sonography

Ileus

Hypotelorism

Synophrys

Congenital contracture

Hypotonia

Micrognathia

Retrognathia

Cerebral atrophy

Colpocephaly

Corpus callosum, agenesis of

Global developmental delay

Hydrocephalus

Hypoplasia of the corpus callosum

Polymicrogyria

Reduced cerebral white matter volume

Schizencephaly

Seizure

Ventriculomegaly

Low-set ears

Growth delay

Reviews

Clinical resources

Molecular resources

Consumer resources