combination with other symptoms. Mutations that result solely in microcephaly (primary microcephaly) exist but are less common. External toxins to the embryo...
46 KB (4,293 words) - 01:56, 7 October 2024
Achalasia microcephaly syndrome is a rare condition whereby achalasia in the oesophagus manifests alongside microcephaly and intellectual disability. This...
23 KB (2,709 words) - 22:04, 30 January 2024
Microhydranencephaly (redirect from Hydranencephaly and microcephaly)
development characterized by both microcephaly and hydranencephaly. Signs and symptoms may include severe microcephaly, scalp rugae (a series of ridges)...
3 KB (255 words) - 15:18, 27 October 2024
baby developing microcephaly at about 1% when the mother is infected during the first trimester, with the risk of developing microcephaly becoming uncertain...
129 KB (12,099 words) - 16:49, 2 November 2024
Microphthalmia (redirect from Microcephaly microphthalmos blindness)
is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype". Journal...
25 KB (2,173 words) - 08:38, 29 October 2024
ASPM (gene) (redirect from Abnormal spindle-like microcephaly-associated protein)
associated with autosomal recessive primary microcephaly. "ASPM" is an acronym for "Abnormal Spindle-like, Microcephaly-associated", which reflects its being...
29 KB (3,703 words) - 21:55, 20 August 2024
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (often referred to by its acronym SPATCCM) is a rare autosomal recessive disease...
9 KB (786 words) - 14:44, 22 October 2024
Mandibulofacial dysostosis with microcephaly syndrome, also known as growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome...
10 KB (895 words) - 16:40, 27 October 2024
concludes Zika causes microcephaly and other birth defects". CDC. 13 April 2016. Retrieved 14 April 2016. "Zika virus microcephaly and Guillain–Barré syndrome...
74 KB (7,597 words) - 16:49, 2 November 2024
Amish lethal microcephaly is a rare genetic disorder which is characterized by severe microcephaly (small head) from birth, brain hypoplasia (underdeveloped...
5 KB (302 words) - 21:07, 10 April 2024
that pyriproxyfen, not the Zika virus, is the cause of the 2015-2016 microcephaly outbreak in Brazil was raised in a report of the Argentinean organization...
17 KB (1,635 words) - 08:33, 2 November 2024
Mowat–Wilson syndrome (redirect from Mental retardation microcephaly unusual facies)
required diagnostic criterion. Distinctive physical features include microcephaly, narrow chin, cupped ears with uplifted lobes with central depression...
9 KB (760 words) - 00:03, 27 February 2024
Osteogenesis imperfecta (redirect from Osteogenesis imperfecta congenita microcephaly and cataracts)
Osteogenesis imperfecta (IPA: /ˌɒstioʊˈdʒɛnəsɪs ˌɪmpɜːrˈfɛktə/; OI), colloquially known as brittle bone disease, is a group of genetic disorders that all...
150 KB (15,385 words) - 12:29, 2 November 2024
Pancytopenia (redirect from Microcephaly developmental delay pancytopenia)
Pancytopenia is a medical condition in which there is significant reduction in the number of almost all blood cells (red blood cells, white blood cells...
8 KB (794 words) - 13:00, 23 October 2024
due to ZNF335 deficiency Microcephaly 13, primary, autosomal recessive Microcephaly 16, primary, autosomal recessive Microcephaly 2, primary, autosomal recessive...
14 KB (1,343 words) - 23:07, 16 October 2024
Homo floresiensis (section Microcephaly)
with microcephaly. A 2006 study stated that LB1 probably descended from a pygmy population of modern humans, but herself shows signs of microcephaly, and...
73 KB (7,573 words) - 19:55, 29 October 2024
primordial dwarfism Microcephaly Microcephaly Microcephaly a – Microcephaly l Microcephaly albinism digital anomalies syndrome Microcephaly autosomal dominant...
28 KB (2,469 words) - 04:35, 13 June 2024
individuals born with PCH have reached adulthood. Mental retardation and microcephaly with pontine and cerebellar hypoplasia Millen KJ, Gleeson JG (February...
12 KB (938 words) - 14:26, 25 October 2024
origins. The largest number of them live in Poland. It is characterized by microcephaly, a distinct facial appearance, short stature, immunodeficiency, radiation...
9 KB (1,011 words) - 16:38, 26 October 2024
Strømme syndrome (category Syndromes with microcephaly)
atresia (in which part of the intestine is missing), eye abnormalities and microcephaly. The intestinal atresia is of the "apple-peel" type, in which the remaining...
25 KB (2,717 words) - 18:28, 25 March 2024
Methylmalonic acidemias (redirect from Methylmalonic aciduria microcephaly cataract)
Methylmalonic acidemias, also called methylmalonic acidurias, are a group of inherited metabolic disorders, that prevent the body from properly breaking...
48 KB (4,435 words) - 15:54, 30 October 2024
Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) – also known as mental retardation, X-linked, syndromic, Najm type...
19 KB (2,043 words) - 02:42, 13 July 2024
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome is a rare autosomal recessive syndromic form of agammaglobulinemia that is...
3 KB (185 words) - 15:04, 19 October 2024
Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome (section Autosomal dominant intellectual disability-44 with microcephaly)
extrasystoles that weren't associated with syncopal episodes, 2 had microcephaly, the same 2 patients had a low anterior hairline, and the same 2 patients...
8 KB (835 words) - 15:11, 27 October 2023
Diamond-Blackfan anemia 21 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Epilepsy, X-linked 2, with or...
14 KB (1,244 words) - 00:43, 18 October 2024
syndrome is an X linked syndrome associated with intellectual disability, microcephaly, seizures, ataxia and absent speech. Onset of symptoms is normally within...
4 KB (456 words) - 14:16, 24 February 2024
Feingold syndrome (redirect from Microcephaly mesobrachyphalangy tracheoesophageal fistula syndrome)
reported worldwide. Feingold syndrome is marked by various combinations of microcephaly, limb malformations, esophageal and duodenal atresias. Cognition is affected...
4 KB (324 words) - 18:14, 25 March 2024
Mild to severe developmental delay Severely impaired speech Seizures Microcephaly Sparse hair Progressive skin wrinkling Thick, anteverted alae nasi Long...
6 KB (511 words) - 09:03, 11 January 2023
Microcephaly lymphoedema chorioretinal dysplasia also known as lymphedema microcephaly chorioretinopathy syndrome is a rare genetic condition associated...
4 KB (407 words) - 13:07, 30 June 2023
Holoprosencephaly Mandibulofacial dysostosis-microcephaly syndrome MEGF8-related Carpenter syndrome Microcephaly, primary autosomal dominant Mucolipidosis...
35 KB (3,636 words) - 03:36, 30 July 2024