https://icd.codes/icd10cm/Q00-Q07, http://identifiers.org/mesh/D009421, http://purl.obolibrary.org/obo/Orphanet_98044

MONDO:0020022

• Gomez-Lopez-Hernandez syndrome
• B4GALT1-CDG
• glycosylphosphatidylinositol biosynthesis defect 15
• PHACE syndrome
• spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
• partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
• Hoyeraal-Hreidarsson syndrome
• macrocephaly-short stature-paraplegia syndrome
• Joubert syndrome with ocular defect
• Joubert syndrome with renal defect
• SLC39A8-CDG
• permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
• autosomal recessive spinocerebellar ataxia 20
• ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
• Lhermitte-Duclos disease
• X-linked cerebral-cerebellar-coloboma syndrome syndrome
• Joubert syndrome with oculorenal defect
• syndromic X-linked intellectual disability 5
• X-linked intellectual disability-cerebellar hypoplasia syndrome
• cervical hypertrichosis-peripheral neuropathy syndrome
• syndromic X-linked intellectual disability Najm type
• orofaciodigital syndrome type 6
• Dandy-Walker malformation-postaxial polydactyly syndrome
• facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
• Aase-Smith syndrome
• craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
• NPHP3-related Meckel-like syndrome
• Ritscher-Schinzel syndrome