Acrocallosal Syndrome
hypoplasia of cerebellar hemispheres, hypoplasia of medulla oblongata, agenesis or hypoplasia of cerebellar vermis and corpus callosum abnormalities.[ncbi.nlm.nih.gov]
We report on a case of acrocallosal syndrome with dysmorphic features, macrocephaly, duplicated hallux, agenesis of corpus callosum and unilateral cerebellar hypoplasia.[paedcro.com]
[…] and hypoplasia or agenesis of cerebellar vermis).[orpha.net]
Diaphragmatic Hernia
Central nervous system Anecelphaly Ventriculomegaly Spina bifida Cerebellar hypoplasia Cardiovascular Ventricular septal defect Atrial septal defect Coarctation of the aorta[iame.com]
Facial Cleft lip Cleft palate Thorax Pulmonary sequestration Genitourinary Hypospadias Renal agenesis Chromosomal anomalies occur in 5– 34% of fetuses with CDH 10,17,18,22,23[iame.com]
Progressive Myoclonic Epilepsy Type 7
[…] syndrome Corpus callosum agenesis-abnormal genitalia syndrome Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation Cortical dysplasia-focal epilepsy[se-atlas.de]
[…] with brain and eye anomalies Congenital neuronal ceroid lipofuscinosis Congenital toxoplasmosis Constitutional megaloblastic anemia with severe neurologic disease Corneal-cerebellar[se-atlas.de]
Unverricht-Lundborg Syndrome
[…] genitalia syndrome Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom Microcephaly-corpus callosum hypoplasia-intellectual[orpha.net]
[…] syndrome Microcephaly-complex motor and sensory axonal neuropathy syndrome Microcephaly-congenital cataract-psoriasiform dermatitis syndrome Microcephaly-corpus callosum agenesis-abnormal[orpha.net]
Benign Adult Familial Myoclonic Epilepsy
[…] genitalia syndrome Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom Microcephaly-corpus callosum hypoplasia-intellectual[orpha.net]
[…] syndrome Microcephaly-complex motor and sensory axonal neuropathy syndrome Microcephaly-congenital cataract-psoriasiform dermatitis syndrome Microcephaly-corpus callosum agenesis-abnormal[orpha.net]
Familial Recurrent Peripheral Facial Palsy
hypoplasia syndrome X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome X-linked intellectual disability-craniofacioskeletal syndrome[se-atlas.de]
[…] spasticity Paroxysmal exertion-induced dyskinesia Paroxysmal extreme pain disorder Paroxysmal kinesigenic dyskinesia Paroxysmal non-kinesigenic dyskinesia Partial corpus callosum agenesis-cerebellar[se-atlas.de]
[…] vermis hypoplasia with posterior fossa cysts syndrome Partington syndrome Pelizaeus-Merzbacher disease Pelizaeus-Merzbacher disease in female carriers Pelizaeus-Merzbacher[se-atlas.de]
Vertebrobasilar Insufficiency
Bilateral congenital C2 transverse foraminal hypoplasia with segmental vertebral artery agenesis resulting in adult-onset bilateral cerebellar infarction has not been previously[karger.com]
Hydrocephalus
, cerebellar hypoplasia, or posterior fossa arachnoid cysts.[neuropathology-web.org]
Even using CT and MRI, the diagnosis of the DWM is difficult because in some planes of view it is difficult to distingish agenesis of the vermis from a large cisterna magna[neuropathology-web.org]
Primary Immune Deficiency Disorder
hypoplasia Isolated biliary atresia Isolated blepharochalasis Isolated bone marrow mastocytosis Isolated brachycephaly Isolated cerebellar agenesis Isolated cerebellar vermis[orpha.net]
agenesis Isolated cerebellar vermis hypoplasia Isolated CHF Isolated chorioretinal dystrophy Isolated cleft lip Isolated cleft of the ala nasi Isolated cloverleaf skull syndrome[orpha.net]
Isolated oxidative phosphorylation complex disorder Isolated oxycephaly Isolated partial cerebellar vermis agenesis Isolated partial vaginal agenesis Isolated Pierre Robin[orpha.net]
Patau Syndrome
[…] of the corpus callosum); underdevelopment of the cerebellum (cerebellar hypoplasia); hydrocephalus; and/or myelomeningocele.[rarediseases.org]
[…] some cases, additional features may include abnormal tone of voluntary (skeletal) muscles; absence of the band of nerve fibers that joins the two hemispheres of the brain (agenesis[rarediseases.org]