http://identifiers.org/mesh/D009421, http://purl.obolibrary.org/obo/Orphanet_98044, http://purl.bioontology.org/ontology/ICD10CM/Q00-Q07

MONDO:0020022

• Gomez-Lopez-Hernandez syndrome
• B4GALT1-congenital disorder of glycosylation
• glycosylphosphatidylinositol biosynthesis defect 15
• PHACE syndrome
• hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
• spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
• Ritscher-Schinzel syndrome
• NPHP3-related Meckel-like syndrome
• craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
• congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
• childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
• Aase-Smith syndrome
• facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
• Dandy-Walker malformation-postaxial polydactyly syndrome
• orofaciodigital syndrome type 6
• 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
• global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
• X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
• tubulinopathy-associated dysgyria
• Joubert syndrome with renal defect
• TELO2-related intellectual disability-neurodevelopmental disorder
• SLC39A8-CDG
• severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
• permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
• autosomal recessive spinocerebellar ataxia 20
• cerebellar-facial-dental syndrome
• lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
• 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