Agenesis of cerebellar vermis

Symptom Information:

Symptom ID: HPO:0002335
Synonyms:
Cerebellar vermis aplasia [HPO:0002335]
Cerebellum vermis agenesis [Orphanet:42810]
Agenesis of cerebellar vermis [OMIM:Agenesis of cerebellar vermis]
Cerebellar vermis aplasia [OMIM:Cerebellar vermis aplasia]
Cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia [Orphanet:42810]
Quality:
Cross references:
HPO:0006817 "Aplasia/Hypoplasia of the cerebellar vermis" [Orphanet:42810]
HPO:0001320 "Cerebellar vermis hypoplasia" [Orphanet:42810]
HPO:0007360 "Aplasia/Hypoplasia of the cerebellum" [Orphanet:42810]
Orphanet:42810 "Cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia" [Orphanet:42810]
OMIM: "Agenesis of cerebellar vermis" [OMIM:Agenesis of cerebellar vermis]
OMIM: "Cerebellar vermis aplasia" [OMIM:Cerebellar vermis aplasia]
Is a (Direct Parents):
Orphanet Cerebellar vermis hypoplasia
HPO         Aplasia/Hypoplasia of the cerebellar vermis
Orphanet Structural anomalies of the nervous system
Is a (Whole tree): HPO:
MedDRA:
Database Frequency: 25 / 7739
Resource:

All diseases associated with this symptom:

3-methylglutaconic aciduria type 4 (Orphanet:67048)
Alström syndrome (Orphanet:64)
Atherosclerosis - deafness - diabetes - epilepsy - nephropathy (Orphanet:1192)
Branchio-oculo-facial syndrome (Orphanet:1297)
CEREBELLAR VERMIS APLASIA WITH ASSOCIATED FEATURES SUGGESTING SMITH-LEMLI-OPITZSYNDROME AND MECKEL SYNDROME (OMIM:213010)
Dandy-Walker malformation - postaxial polydactyly (Orphanet:1566)
Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation (Orphanet:1970)
Gómez-López-Hernández syndrome (Orphanet:1532)
Isolated Dandy-Walker malformation (Orphanet:217)
Joubert syndrome (Orphanet:475)
Joubert syndrome 2 (OMIM:608091)
Joubert syndrome 5 (OMIM:610188)
Joubert syndrome with oculorenal defect (Orphanet:2318)
Lissencephaly type 3 - metacarpal bone dysplasia (Orphanet:86822)
MELAS (Orphanet:550)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Maternally-inherited diabetes and deafness (Orphanet:225)
Meckel syndrome, type 4 (OMIM:611134)
Mevalonic aciduria (Orphanet:29)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Mowat-Wilson syndrome (Orphanet:2152)
Nephronophthisis 9 (OMIM:613824)
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis (Orphanet:65288)
Porencephaly - cerebellar hypoplasia - internal malformations (Orphanet:2941)
Spinocerebellar ataxia type 29 (Orphanet:208513)