CONDITION REFERENCE
Amish lethal microcephaly
Information from MedlinePlus Genetics about this condition and how it can be inherited.
About this condition
Amish lethal microcephaly is a disorder in which infants are born with an usually small head (microcephaly) and underdeveloped brain.
Infants with Amish lethal microcephaly have a sloping forehead and an extremely small head size. They may also have an unusually small lower jaw and chin (micrognathia) and an enlarged liver (hepatomegaly).
Affected infants may have seizures and difficulty maintaining their body temperature. Often they become very irritable starting in the second or third month of life. A compound called alpha-ketoglutaric acid can be detected in their urine (alpha-ketoglutaric aciduria), and during episodes of viral illness they tend to develop elevated levels of acid in the blood and tissues (metabolic acidosis). Infants with this disorder typically feed adequately but do not develop skills such as purposeful movement or the ability to track faces and sounds. Affected infants live only about six months.
Inheritance
- Autosomal recessive
A condition can have several forms with different inheritance patterns. Each pattern may apply to a different gene or form of the condition.
Related genes
MedlinePlus lists these genes for this condition. Open a gene page to read any available ClinGen reviews and ClinVar records.
YOUR DNA FILE
What can your DNA file tell you?
Your DNA file only includes the positions your test checked and reported. Consumer DNA kits usually test selected positions. Sequencing files can also leave out positions that were not reported or where the test could not give a result.
A variant missing from your file does not mean you tested negative for it. A ClinVar classification applies to a particular variant and the condition or finding it was reported for. It does not apply to everyone with that gene. An uncertain finding cannot establish a diagnosis.
BioDecode reads supported DNA files on your computer. It cannot fill gaps in your test, diagnose a condition or replace clinical testing.
Sources and dates
The source information on this page last changed on 2026-09-18.
MedlinePlus Source details
Source release: Fri, 18 Sep 2026 05:17:13 GMT
Source publication: 2024-05-24
Source review: 2007-11
SHA-256: fdc8bd614310c12718379cef6569962e5d0e791cecabcc355b53a72816ac263a
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