-
combination with
other symptoms.
Mutations that
result solely in
microcephaly (primary
microcephaly)
exist but are less common.
External toxins to the embryo...
-
Achalasia microcephaly syndrome is a rare
condition whereby achalasia in the
oesophagus manifests alongside microcephaly and
intellectual disability. This...
- ****ociated with
autosomal recessive primary microcephaly. "ASPM" is an
acronym for "Abnormal Spindle-like,
Microcephaly-****ociated",
which reflects its being...
-
development characterized by both
microcephaly and hydranencephaly.
Signs and
symptoms may
include severe microcephaly,
scalp rugae (a
series of ridges)...
-
primordial dwarfism Microcephaly Microcephaly Microcephaly a –
Microcephaly l
Microcephaly albinism digital anomalies syndrome Microcephaly autosomal dominant...
- is
disrupted in a
patient with a
translocation t(6;13)(q21;q12) and
microcephaly, microphthalmia, ectrodactyly,
prognathism (MMEP) phenotype". Journal...
-
Osteogenesis imperfecta (IPA: /ˌɒstioʊˈdʒɛnəsɪs ˌɪmpɜːrˈfɛktə/; OI),
colloquially known as
brittle bone disease, is a
group of
genetic disorders that all...
- baby
developing microcephaly at
about 1% when the
mother is
infected during the
first trimester, with the risk of
developing microcephaly becoming uncertain...
-
Mandibulofacial dysostosis with
microcephaly syndrome, also
known as
growth delay-intellectual disability-mandibulofacial dysostosis-
microcephaly-cleft
palate syndrome...
- due to ZNF335
deficiency Microcephaly 13, primary,
autosomal recessive Microcephaly 16, primary,
autosomal recessive Microcephaly 2, primary,
autosomal recessive...
