Human Phenotype Ontology 
Grandparent Node:
expandAplasia/Hypoplasia of the cerebellar vermis (HP:0006817)help
Parent Node:
expandCerebellar vermis hypoplasia (HP:0001320)help
..Starting node
..expandInferior cerebellar vermis hypoplasia (HP:0007068)help
Term ID: 7068
Name: Inferior cerebellar vermis hypoplasia
Synonym: Hypoplasia of inferior vermis; Inferior vermis hypoplasia
Definition: Underdevelopment of the inferior portion of the vermis of cerebellum.
Comments:
Reference: HP:0007068
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDandy-Walker malformation (HP:0001305) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007068HP:0007068Inferior cerebellar vermis hypoplasia0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0007068HP:0007068Inferior cerebellar vermis hypoplasia0BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomaliesHP:0040283 - Occasional38
HP:0007068HP:0007068Inferior cerebellar vermis hypoplasia0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0007068HP:0007068Inferior cerebellar vermis hypoplasia0BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndromeHP:0040283 - Occasional7
HP:0007068HP:0007068Inferior cerebellar vermis hypoplasia0GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities1
HP:0007068HP:0007068Inferior cerebellar vermis hypoplasia0GRM1 CL E G H29114593OMIM:614831SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR138
HP:0007068HP:0007068Inferior cerebellar vermis hypoplasia0INTS1 CL E G H2617324555OMIM:618571NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0007068HP:0007068Inferior cerebellar vermis hypoplasia0KIAA0753 CL E G H985129110OMIM:619476JOUBERT SYNDROME 38; JBTS384
HP:0007068HP:0007068Inferior cerebellar vermis hypoplasia0L1CAM CL E G H38976470OMIM:304100Corpus callosum, partial agenesis of, X-linked.134
HP:0007068HP:0007068Inferior cerebellar vermis hypoplasia0LAMA1 CL E G H2842176481ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndromeHP:0040282 - Frequent35
HP:0007068HP:0007068Inferior cerebellar vermis hypoplasia0MDH1 CL E G H41906970OMIM:618959DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0007068HP:0007068Inferior cerebellar vermis hypoplasia0PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome.77
HP:0007068HP:0007068Inferior cerebellar vermis hypoplasia0TRAPPC9 CL E G H8369630832OMIM:613192Mental retardation, autosomal recessive 13158


Genes (12) :ASXL3 BMP4 BRF1 GEMIN4 GRM1 INTS1 KIAA0753 L1CAM LAMA1 MDH1 PIEZO2 TRAPPC9

Diseases (13) :OMIM:615485 ORPHA:139471 OMIM:607932 ORPHA:444072 OMIM:617913 OMIM:614831 OMIM:618571 OMIM:619476 OMIM:304100 ORPHA:370022 OMIM:618959 OMIM:248700 OMIM:613192
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.