Amish lethal microcephaly
Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.
MONDO:0000152
thiamine-responsive dysfunction syndrome
is_a
MONDO:0001149
microcephaly
is_a
MONDO:0100500
Mendelian neurodevelopmental disorder
is_a
Amish lethal microcephaly
exact
MCPHA
related
microcephaly, Amish type
related
SPBC1604.04