Create issue ticket

1,995 Possible Causes for Agenesis of Corpus Callosum, Delayed Acquisition of Motor Skills, Proximally Placed Thumb

  • Mowat-Wilson Syndrome

    The mental retardation, usually severe, was constant; the delay in the acquisition of motor skills was more variable (table 2).[doi.org] […] of the corpus callosum.[symptoma.com] […] that did not require surgery, ulnar deviation of the hands, proximally placed thumbs, delayed bone age, significant scoliosis, and camptodactyly [ Mowat et al 2003, Adam[ncbi.nlm.nih.gov]

  • Partial Monosomy 18q

    Milder forms include absent olfactory tracts and bulbs, agenesis of corpus callosum, hypopituitarism and minor facial features (hypo- or hypertelorism, flat nasal bridge)[ojrd.biomedcentral.com] placed thumbs 33 Chorea 3 Nystagmus 30 Gap between 1st & 2nd toe 3 Palate abnormality 30 Low posterior hairline 3 Cleft 12 Scoliosis 3 High arched 15 Strawberry birthmark[labmed.hallym.ac.kr] Severe malformations of the brain associated with facial features such as cyplopia, cebocephaly, premaxillary agenesis, bilateral cleft lip and palate are present in 10–15[ojrd.biomedcentral.com]

  • Aicardi's Syndrome

    Aicardi's syndrome, which is characterized by agenesis of the corpus callosum, specific chorioretinal abnormalities, and defects of vertebrae and ribs, is considered a probable[ncbi.nlm.nih.gov] Abstract Aicardi's syndrome is the association of three main features: infantile spasms, chorioretinopathia with lacunae and agenesis of the corpus callosum.[ncbi.nlm.nih.gov] A 12-year-old mentally handicapped female has all the characteristics of the syndrome: agenesis of the Corpus callosum; female infant with mental handicap, epilepsy, characteristic[ncbi.nlm.nih.gov]

    Missing: Delayed Acquisition of Motor Skills
  • Smith Lemli Opitz Syndrome

    […] of corpus callosum, cerebellar vermis dysgenesis, cataracts, cleft palate, many different forms of congenital heart defect, pyloric stenosis and/or Hirschsprung dysganglionosis[ncbi.nlm.nih.gov] placed thumbs.[orpha.net] She had microcephaly with hypoplastic cerebral frontal lobes and cerebellum, agenesis of the splenium of corpus callosum, abnormal facies including hypertelorism with bilateral[ncbi.nlm.nih.gov]

    Missing: Delayed Acquisition of Motor Skills
  • Autosomal Recessive Spastic Paraplegia Type 56

    Hereditary motor and sensory neuropathy with agenesis of the corpus callosum. Ann Neurol. 2003 ; 54 : 9 – 18. 54.[cambridge.org] […] of the corpus callosum.[jnnp.bmj.com] […] of the corpus callosum; hydrocephalus with stenosis of the aqueduct of Sylvius XLR 13 MAG 159460 Spastic paraplegia 75, autosomal recessive AR 4 NT5C2 600417 spastic paraplegia[centogene.com]

    Missing: Proximally Placed Thumb
  • Frontonasal Dysplasia

    They occasionally have developmental delay initially, as the large head slows acquisition of motor skills.[facesplus.com] Our series also had a high frequency of patients with agenesis of the corpus callosum (12 cases), basal encephalocele (10 cases), lipoma of the corpus callosum (four cases[ncbi.nlm.nih.gov] […] of the corpus callosum).[ncbi.nlm.nih.gov]

    Missing: Proximally Placed Thumb
  • Cerebro-Facio-Thoracic Dysplasia

    corpus callosum, congenital heart andrenal defects and short stature.[docslide.com.br] Callosum Agenesis-Chorioretinal Abnormality Syndrome Corpus Callosum Agenesis-Chorioretinopathy-Infantile Spasms Syndrome Corpus Callosum Agenesis-Ocular Anomalies-Salaam[neo-genetics.com] Agenesis of the Corpus Callosum Aicardi syndrome. Chorioretinal anomalies-corpus callosum agenesis-infantile spasms syndrome.[neurometplus.com]

    Missing: Proximally Placed Thumb
  • Infantile-Onset Ascending Hereditary Spastic Paralysis

    […] of the corpus callosum; hydrocephalus with stenosis of the aqueduct of Sylvius XLR 13 MAG 159460 Spastic paraplegia 75, autosomal recessive AR 4 NT5C2 600417 spastic paraplegia[centogene.com] callosum agenesis-abnormal genitalia syndrome Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome Corpus callosum agenesis-neuronopathy syndrome[se-atlas.de] Neuropathy, hereditary sensory, type IIC; mental retardation- 9 AD, AR 58 KIF1C 603060 Spastic ataxia 2, autosomal recessive AR 8 L1CAM 308840 spastic paraplegia type 1; partial agenesis[centogene.com]

    Missing: Proximally Placed Thumb
  • Autosomal Recessive Spastic Paraplegia Type 20

    […] of Corpus Callosum.[reference.md] […] of the corpus callosum.[jnnp.bmj.com] callosum, partial agenesis XL 80 292 L2HGDH L-2-hydroxyglutaric aciduria AR 15 79 MARS2 Combined oxidative phosphorylation deficiency AR 8 5 NIPA1 Spastic paraplegia AD 5[blueprintgenetics.com]

    Missing: Proximally Placed Thumb
  • Muscular Dystrophy-Dystroglycanopathy Type C1

    The patient is a boy with hydrocephalus and cobblestone lissencephaly with agyria and agenesis of the corpus callosum.[ncbi.nlm.nih.gov] The brain manifests cobblestone lissencephaly with agenesis of the corpus callosum, cerebellar hypoplasia, hydrocephaly, and sometimes encephalocele ( fig. 1 ).[ncbi.nlm.nih.gov]

    Missing: Proximally Placed Thumb

Similar symptoms