-
Joubert syndrome is a rare
autosomal recessive genetic disorder that
affects the cerebellum, an area of the
brain that
controls balance and coordination...
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Phenylketonuria (PKU) is an
inborn error of
metabolism that
results in
decreased metabolism of the
amino acid phenylalanine.
Untreated PKU can lead to...
- name is an
acronym of the
defining signs:
cerebellar vermis aplasia,
oligophrenia,
congenital ataxia,
coloboma and
hepatic fibrosis. The
condition is ****ociated...
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medicamentos huérfanos synd/1678 at Who
Named It?
SJOGREN T,
LARSSON T (1957). "
Oligophrenia in
combination with
congenital ichthyosis and
spastic disorders; a clinical...
- (CeCAS). Gillespie, FD (Mar 1965). "Aniridia,
cerebellar ataxia, and
oligophrenia in siblings".
Archives of Ophthalmology. 73 (3): 338–341. doi:10.1001/archopht...
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symptoms of
Ruzicka Goerz Anton syndrome include ichthyosis, deafness,
oligophrenia, and
skeletal deformities.
Therapy with Ro 10-9359, a
retinoid derivative...
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Alopecia contractures dwarfism mental ****ation
Alopecia epilepsy oligophrenia syndrome of
Moynahan Alopecia, epilepsy, pyorrhea,
mental subnormality...
- ****ation,
ocular abnormalities, microcephaly, brachydactyly, and
oligophrenia) SLC25A24 AD Gorlin–Chaudhry–Moss
syndrome FAM111A AD
Gracile bone dysplasia...
-
publisher (link) synd/1678 at Who
Named It?
SJOGREN T,
LARSSON T (1957). "
Oligophrenia in
combination with
congenital ichthyosis and
spastic disorders; a clinical...
- Grinberg, K.N., Rayskaya, M.M., & Malinouskine, B.H. "A
clinical picture of
oligophrenia related to
three extra **** chromosomes." Defectologia, 1978. (****umed...
