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  2. Microcephaly - Wikipedia

    en.wikipedia.org/wiki/Microcephaly

    There are a variety of symptoms that can occur in children. Infants with microcephaly are born with either a normal or reduced head size. [10] Subsequently, the head fails to grow, while the face continues to develop at a normal rate, producing a child with a small head and a receding forehead, and a loose, often wrinkled scalp. [11]

  3. GLUT1 deficiency - Wikipedia

    en.wikipedia.org/wiki/GLUT1_deficiency

    Infants with GLUT1 deficiency syndrome have a normal head size at birth, but the growth of the brain and skull is slow, in severe cases resulting in an abnormally small head size (microcephaly). [4] Typically, seizures start between one and four months in 90% of cases with abnormal eye movements and apneic episodes preceding the onset of ...

  4. Achalasia microcephaly - Wikipedia

    en.wikipedia.org/wiki/Achalasia_microcephaly

    The main signs of achalasia microcephaly syndrome involve the manifestation of each individual disease associated with the condition. Microcephaly can be primary, where the brain fails to develop properly during pregnancy, or secondary, where the brain is normal sized at birth but fails to grow as the child ages. [2]

  5. Filippi syndrome - Wikipedia

    en.wikipedia.org/wiki/Filippi_syndrome

    The symptoms of Filippi Syndrome can be congenital (apparent as an infant). [1] The occurrence and severity of such symptoms are variable across affected individuals. [1] [2] The progression of symptoms over one's lifetime has not been thoroughly studied due to the small number of people with Filippi Syndrome globally.

  6. Microlissencephaly - Wikipedia

    en.wikipedia.org/wiki/Microlissencephaly

    The combination of lissencephaly with severe congenital microcephaly is designated as microlissencephaly only when the cortex is abnormally thick. If such combination exists with a normal cortical thickness (2.5 to 3 mm [ 4 ] ), it is known as " microcephaly with simplified gyral pattern " (MSGP). [ 5 ]

  7. Renpenning's syndrome - Wikipedia

    en.wikipedia.org/wiki/Renpenning's_syndrome

    People with Renpenning's typically begin learning language at an ordinary pace, but by the age of 3–4 they experience a regression in mental and physical development, such as mild low muscle tone resulting in elongated faces and rapid loss in the normal growth of the head (microcephaly). Small testes and short stature are also known to ...

  8. Mental retardation and microcephaly with pontine and ...

    en.wikipedia.org/wiki/Mental_retardation_and...

    Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) – also known as mental retardation, X-linked, syndromic, Najm type (MRXSNA); X-linked intellectual deficit, Najm type; intellectual developmental disorder, X-linked, syndromic, Najm type; X-linked intellectual disability–microcephaly–pontocerebellar hypoplasia syndrome; and by variations of these terms ...

  9. VPS13B - Wikipedia

    en.wikipedia.org/wiki/VPS13B

    Microcephaly is a medical condition in which the head is misshapen and smaller than normal. [30] In most cases, people with microcephaly experience seizures, development delays, and problems with movement, balance, and eating. Hearing loss and losing vision can occur. [30]