Amish lethal microcephaly
MONDO:0011790Mondo
Findings
No curated finding names Amish lethal microcephaly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.
Definition from the Mondo Disease Ontology (MONDO:0011790), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Second trimester onset
HPO, annotations 2026-09-02
Features
34 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Cerebral visual impairmentHPOHP:0100704
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Hypoplasia of the foveaHPOHP:0007750
- 1 of 1 reported patient
- IrritabilityHPOHP:0000737
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
Show the remaining 22
- Primary microcephalyHPOHP:0011451
- 11 of 11 reported patients
- Sloping foreheadHPOHP:0000340
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Small anterior fontanelleHPOHP:0000237
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- Very frequent (80% to 99% of cases)
- Metabolic acidosisHPOHP:0001942
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC25A19HGNC:14409
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2015
- Supportive · Orphanet · Autosomal recessive · 2021