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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), Pontocerebellar hypoplasia (view)

searching for Cerebellar hypoplasia 20 found (62 total)

alternate case: cerebellar hypoplasia

Revesz syndrome (499 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 (993 words) [view diff] exact match in snippet view article find links to article
Zanni, Ginevra (February 2013). "X-linked intellectual disability-cerebellar hypoplasia syndrome". Orphanet. Bedeschi MF, Novelli A, Bernardini L, Parazzini
Proto-oncogene Wnt-1 (907 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 (1,028 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 (750 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 (2,652 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 (2,025 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) (840 words) [view diff] exact match in snippet view article
Thrombocytopathy asplenia miosis Thrombocytopathy Thrombocytopenia cerebellar hypoplasia short stature Thrombocytopenia chromosome breakage Thrombocytopenia
Border disease (875 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. Feti that are infected between 60–85 days of gestation have a 50%
EN2 (gene) (1,518 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"
Lissencephaly (2,521 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):
List of diseases (P) (1,912 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 (2,003 words) [view diff] case mismatch in snippet view article find links to article
Gastroenterology. 7 (1): 48–51. doi:10.1007/s12328-013-0418-6. PMID 26183508. "Cerebellar Hypoplasia Information Page | National Institute of Neurological Disorders
Cyclin-dependent kinase 5 (5,367 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 proved
Smith–Lemli–Opitz syndrome (6,449 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 (6,213 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 (3,783 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 (11,399 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