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Longer titles found: Cerebellar hypoplasia (non-human) (view), VLDLR-associated cerebellar hypoplasia (view), Mental retardation and microcephaly with pontine and cerebellar hypoplasia (view), Porencephaly-cerebellar hypoplasia-internal malformations syndrome (view), Pontocerebellar hypoplasia (view)

searching for Cerebellar hypoplasia 24 found (73 total)

alternate case: cerebellar hypoplasia

Revesz syndrome (518 words) [view diff] exact match in snippet view article find links to article

fine sparse hair, fine reticulate skin pigmentation, ataxia due to cerebellar hypoplasia, and cerebral calcifications. Its effects are similar to that of

OPHN1 (1,188 words) [view diff] exact match in snippet view article find links to article

2018-09-29. Zanni G (February 2013). "X-linked intellectual disability-cerebellar hypoplasia syndrome". Orphanet. Bedeschi MF, Novelli A, Bernardini L, Parazzini

Proto-oncogene Wnt-1 (1,008 words) [view diff] exact match in snippet view article find links to article

gene for Joubert syndrome, an autosomal recessive disorder with cerebellar hypoplasia as a leading feature. However, further studies suggested that the

Ayelet Galena (643 words) [view diff] exact match in snippet view article find links to article

HH variant. She presented with IUGR, colitis, immune deficiency, cerebellar hypoplasia, microcephaly and very short telomeres. The Galena family partnered

Dyskerin (1,127 words) [view diff] exact match in snippet view article find links to article

with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia". Eur. J. Pediatr. 154 (4): 304–8. doi:10.1007/BF01957367. PMID 7607282

Quadrupedalism (718 words) [view diff] exact match in snippet view article find links to article

May 2016. Türkmen S, Demirhan O, Hoffmann K, et al. (May 2006). "Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping

Microlissencephaly (2,704 words) [view diff] exact match in snippet view article find links to article

epilepsy. This entity could be identical to "lissencephaly with cerebellar hypoplasia type B" (LCHb), and therefore linked to mutations in RELN gene.

Congenital muscular dystrophy (3,106 words) [view diff] exact match in snippet view article find links to article

with this form of congenital muscular dystrophy might have mild cerebellar hypoplasia in some cases . CMD/LGMD without MR-first years of a newborn begins

PEHO syndrome (436 words) [view diff] exact match in snippet view article find links to article

syndrome, mevalonic aciduria, CDG syndromes, autosomal recessive cerebellar hypoplasia, Joubert syndrome, olivo-pontine cerebellar atrophies Treatment

List of diseases (T) (849 words) [view diff] exact match in snippet view article

Thrombocytopathy asplenia miosis Thrombocytopathy Thrombocytopenia cerebellar hypoplasia short stature Thrombocytopenia chromosome breakage Thrombocytopenia

EN2 (gene) (1,737 words) [view diff] exact match in snippet view article

SR (2002). "Agenesis of the mesencephalon and metencephalon with cerebellar hypoplasia: putative mutation in the EN2 gene--report of 2 cases in early infancy"

Border disease (880 words) [view diff] exact match in snippet view article find links to article

shakers' are born with hair (not wool) and the shaking comes from cerebellar hypoplasia. Fetuses that are infected between 60 and 85 days of gestation have

Exosome component 5 (971 words) [view diff] exact match in snippet view article find links to article

EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness". Human Molecular Genetics. 29 (13): 2218–2239

Lissencephaly (2,536 words) [view diff] exact match in snippet view article find links to article

Walsh CA (September 2000). "Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations". Nature Genetics. 26 (1):

Goldberg–Shprintzen syndrome (1,327 words) [view diff] exact match in snippet view article find links to article

D'Alonzo, Gabriella; Papalia, Francesco (2003-05-01). "Pachygyria and cerebellar hypoplasia in Goldberg-Shprintzen syndrome". American Journal of Medical Genetics

List of diseases (P) (1,908 words) [view diff] exact match in snippet view article

syndrome lethal type Popliteal pterygium syndrome Porencephaly cerebellar hypoplasia malformations Porencephaly Porokeratosis of Mibelli Porokeratosis

COACH syndrome (1,969 words) [view diff] case mismatch in snippet view article find links to article

doi:10.1007/s12328-013-0418-6. PMID 26183508. S2CID 41233705. "Cerebellar Hypoplasia Information Page | National Institute of Neurological Disorders

Anita Corbett (792 words) [view diff] exact match in snippet view article find links to article

EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness". Human Molecular Genetics. 29 (13): 2218–2239

Cyclin-dependent kinase 5 (5,356 words) [view diff] exact match in snippet view article find links to article

consanguineous Israeli Muslim family that suffered from lissencephaly-7 with cerebellar hypoplasia had a splice site mutation in the Cdk5 gene. Cdk5 has been proven

Smith–Lemli–Opitz syndrome (6,555 words) [view diff] exact match in snippet view article find links to article

cleft lip/palate agenesis or hypoplasia of the corpus callosum cerebellar hypoplasia increased ventricular size decreased frontal lobe size polydactyly

Lymphocytic choriomeningitis (6,308 words) [view diff] exact match in snippet view article find links to article

development and intellectual disability. Less severe cases with isolated cerebellar hypoplasia and symptoms of ataxia and jitteriness have been reported occasionally

DSCAM (3,787 words) [view diff] exact match in snippet view article find links to article

pre- and post-natal defects of DS, particularly, the cerebral and cerebellar hypoplasia and the abnormalities of the dendritic tree. Further, a role for

Cerebellum (11,561 words) [view diff] case mismatch in snippet view article find links to article

the original on 4 January 2015. Retrieved 9 January 2015. "NINDS Cerebellar Hypoplasia Information Page". National Institutes of Health. 29 September 2011

The Wizard of Paws (331 words) [view diff] exact match in snippet view article find links to article

builds a cart for Morrison, Boone's buddy, another raccoon with cerebellar hypoplasia. In Louisville, Kentucky, Derrick builds front-feet prostheses for