Hypoplasia of the brainstem

Symptom Information:

Symptom ID: HPO:0002365
Synonyms:
Brainstem hypoplasia [HPO:0002365]
Hypoplastic brain stem [HPO:0002365]
Hypoplastic brainstem [HPO:0002365]
Brainstem hypoplasia [OMIM:Brainstem hypoplasia]
Hypoplasia of the brainstem [OMIM:Hypoplasia of the brainstem]
Hypoplastic brain stem [OMIM:Hypoplastic brain stem]
Hypoplastic brainstem [OMIM:Hypoplastic brainstem]
Brainstem hypoplasia (in some patients) [OMIM:Brainstem hypoplasia (in some patients)]
Quality:
Cross references:
OMIM: "Brainstem hypoplasia" [OMIM:Brainstem hypoplasia]
OMIM: "Hypoplasia of the brainstem" [OMIM:Hypoplasia of the brainstem]
OMIM: "Hypoplastic brain stem" [OMIM:Hypoplastic brain stem]
OMIM: "Hypoplastic brainstem" [OMIM:Hypoplastic brainstem]
OMIM: "Brainstem hypoplasia (in some patients)" [OMIM:Brainstem hypoplasia (in some patients)]
Is a (Direct Parents):
HPO         Aplasia/Hypoplasia of the brainstem
Is a (Whole tree): HPO:
MedDRA:
Database Frequency: 41 / 7739
Resource:

All diseases associated with this symptom:

Bilateral frontoparietal polymicrogyria (Orphanet:101070)
Bohring-Opitz syndrome (Orphanet:97297)
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 (OMIM:615763)
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 (OMIM:615771)
Cobblestone lissencephaly without muscular or ocular involvement (Orphanet:352682)
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome (Orphanet:1369)
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (Orphanet:300570)
Dysequilibrium syndrome (Orphanet:1766)
Fowler syndrome (Orphanet:221126)
Freeman-Sheldon syndrome (Orphanet:2053)
Fumaric aciduria (Orphanet:24)
Galloway-Mowat syndrome (Orphanet:2065)
Goldberg-Shprintzen megacolon syndrome (Orphanet:66629)
Joubert syndrome (Orphanet:475)
Joubert syndrome 1 (OMIM:213300)
Joubert syndrome 2 (OMIM:608091)
Joubert syndrome 21 (OMIM:615636)
Joubert syndrome with oculorenal defect (Orphanet:2318)
Lissencephaly due to LIS1 mutation (Orphanet:95232)
Lissencephaly due to TUBA1A mutation (Orphanet:171680)
Lissencephaly type 3 - metacarpal bone dysplasia (Orphanet:86822)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
MICROHYDRANENCEPHALY (OMIM:605013)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1 (OMIM:236670)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12 (OMIM:615249)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 13 (OMIM:615287)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2 (OMIM:613150)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 (OMIM:253280)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 (OMIM:253800)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 5 (OMIM:613153)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 7 (OMIM:614643)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 6 (OMIM:608840)
Marden-Walker syndrome (Orphanet:2461)
Moebius syndrome (Orphanet:570)
Muscle-eye-brain disease (Orphanet:588)
PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Polymicrogyria with optic nerve hypoplasia (Orphanet:250972)
Pontocerebellar hypoplasia type 3 (Orphanet:97249)
Pontocerebellar hypoplasia type 4 (Orphanet:166063)
Pontocerebellar hypoplasia type 8 (Orphanet:324569)
Wolfram syndrome 1 (OMIM:222300)