Cerebellar vermis hypoplasia

Symptom Information:

Symptom ID: HPO:0001320
Synonyms:
Cerebellar vermal hypoplasia [HPO:0001320]
Hypoplasia of the cerebellar vermis [HPO:0001320]
Hypoplastic cerebellar vermis [HPO:0001320]
Cerebellum vermis agenesis [Orphanet:42810]
Cerebellar vermal hypoplasia [OMIM:Cerebellar vermal hypoplasia]
Cerebellar vermis hypoplasia [OMIM:Cerebellar vermis hypoplasia]
Hypoplasia of the cerebellar vermis [OMIM:Hypoplasia of the cerebellar vermis]
Cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia [Orphanet:42810]
Cerebellar vermis hypoplasia (in 1 patient) [OMIM:Cerebellar vermis hypoplasia (in 1 patient)]
Cerebellar vermis hypoplasia (in some patients) [OMIM:Cerebellar vermis hypoplasia (in some patients)]
Hypoplastic cerebellar vermis [OMIM:Hypoplastic cerebellar vermis]
Quality:
Cross references:
HPO:0006817 "Aplasia/Hypoplasia of the cerebellar vermis" [Orphanet:42810]
HPO:0002335 "Agenesis of cerebellar vermis" [Orphanet:42810]
HPO:0007360 "Aplasia/Hypoplasia of the cerebellum" [Orphanet:42810]
Orphanet:42810 "Cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia" [Orphanet:42810]
OMIM: "Cerebellar vermal hypoplasia" [OMIM:Cerebellar vermal hypoplasia]
OMIM: "Cerebellar vermis hypoplasia" [OMIM:Cerebellar vermis hypoplasia]
OMIM: "Hypoplasia of the cerebellar vermis" [OMIM:Hypoplasia of the cerebellar vermis]
OMIM: "Cerebellar vermis hypoplasia (in 1 patient)" [OMIM:Cerebellar vermis hypoplasia (in 1 patient)]
OMIM: "Cerebellar vermis hypoplasia (in some patients)" [OMIM:Cerebellar vermis hypoplasia (in some patients)]
OMIM: "Hypoplastic cerebellar vermis" [OMIM:Hypoplastic cerebellar vermis]
Is a (Direct Parents):
HPO         Aplasia/Hypoplasia of the cerebellar vermis
Orphanet Structural anomalies of the nervous system
Is a (Whole tree): HPO:
MedDRA:
Database Frequency: 57 / 7739
Resource:

All diseases associated with this symptom:

3-methylglutaconic aciduria type 4 (Orphanet:67048)
AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
Aicardi syndrome (Orphanet:50)
Alström syndrome (Orphanet:64)
Atherosclerosis - deafness - diabetes - epilepsy - nephropathy (Orphanet:1192)
Autosomal dominant Opitz G/BBB syndrome (Orphanet:306588)
Axenfeld anomaly (Orphanet:98978)
Cerebro-oculo-nasal syndrome (Orphanet:66625)
Chondrodysplasia - disorder of sex development (Orphanet:1422)
Congenital amegakaryocytic thrombocytopenia (Orphanet:3319)
Congenital lactic acidosis, Saguenay-Lac-St. Jean type (Orphanet:70472)
Craniosynostosis - Dandy-Walker malformation - hydrocephalus (Orphanet:1538)
Frontonasal dysplasia with alopecia and genital anomaly (Orphanet:228390)
Gómez-López-Hernández syndrome (Orphanet:1532)
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 (Orphanet:137681)
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES (OMIM:615966)
IRIDOGONIODYSGENESIS, TYPE 1 (OMIM:601631)
Joubert syndrome (Orphanet:475)
Joubert syndrome 1 (OMIM:213300)
Joubert syndrome 13 (OMIM:614173)
Joubert syndrome 17 (OMIM:614615)
Joubert syndrome 2 (OMIM:608091)
Joubert syndrome 21 (OMIM:615636)
Joubert syndrome 3 (OMIM:608629)
Joubert syndrome 4 (OMIM:609583)
Joubert syndrome 5 (OMIM:610188)
Joubert syndrome 6 (OMIM:610688)
Joubert syndrome with hepatic defect (Orphanet:1454)
Joubert syndrome with ocular defect (Orphanet:220493)
Joubert syndrome with orofaciodigital defect (Orphanet:2754)
Joubert syndrome with renal defect (Orphanet:220497)
Leber congenital amaurosis 2 (OMIM:204100)
Lissencephaly due to TUBA1A mutation (Orphanet:171680)
MEGDEL syndrome (Orphanet:352328)
MELAS (Orphanet:550)
Maternally-inherited diabetes and deafness (Orphanet:225)
Mowat-Wilson syndrome (Orphanet:2152)
Nephronophthisis 14 (OMIM:614844)
Nephronophthisis 15 (OMIM:614845)
OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Opitz G/BBB syndrome (Orphanet:2745)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
PONTOCEREBELLAR HYPOPLASIA, TYPE 2C (OMIM:612390)
PORETTI-BOLTSHAUSER SYNDROME (OMIM:615960)
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis (Orphanet:65288)
Phosphoserine aminotransferase deficiency (Orphanet:284417)
Pontocerebellar hypoplasia type 6 (Orphanet:166073)
SECKEL SYNDROME 1 (OMIM:210600)
SRD5A3-CDG (Orphanet:324737)
Seckel syndrome (Orphanet:808)
Short rib-polydactyly syndrome, Majewski type (Orphanet:93269)
Short-rib thoracic dysplasia 10 with or without polydactyly (OMIM:615630)
Short-rib thoracic dysplasia 6 with or without polydactyly (OMIM:263520)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
TARP syndrome (Orphanet:2886)
Vici syndrome (Orphanet:1493)
Zechi-Ceide syndrome (Orphanet:217017)