Isolated adermatoglyphia
Absence of fingerprints |...
What do we feel?
It's a rare disease which normally occurs either in the neonatal PHASE/PERIOD or in babyhood, Its prevalence ...
0 members
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0 news
Pyoderma gangrenosum - acne...
PASH syndrome
What do we feel?
It's a rare disease which normally occurs during adulthood, Its prevalence is unknown.
Transmission: No data available
0 members
0 topics
0 news
Intellectual disability - a...
-
What do we feel?
It's a rare disease which normally occurs either in the neonatal PHASE/PERIOD or in babyhood, Its prevalence ...
0 members
0 topics
0 news
Congenital cataract microco...
CCMCO
What do we feel?
It's a rare disease which normally occurs either in the neonatal PHASE/PERIOD or in babyhood, Its prevalence ...
0 members
0 topics
0 news
Combined malonic and methyl...
CMAMMA | Combined malonic...
What do we feel?
It's a rare disease which normally occurs at any age, Its prevalence is unknown.
Transmission: Autosomal dominant, ...
0 members
0 topics
0 news
12q15q21.1 microdeletion sy...
Del(12)(q15)(q21.1) | Del...
What do we feel?
It's a rare disease which normally occurs either in the neonatal PHASE/PERIOD or in babyhood, Its prevalence ...
0 members
0 topics
0 news
Microtriplication 11q24.1
Tetrasomy 11q24.1
What do we feel?
It's a rare disease which normally occurs during childhood, Its prevalence is unknown.
0 members
0 topics
0 news
Fatal infantile hypertrophi...
Fatal infantile HCM due t...
What do we feel?
It's a rare disease which normally occurs either in the neonatal PHASE/PERIOD or in babyhood, Its prevalence ...
0 members
0 topics
0 news
BAP1-related tumor predispo...
Tumor susceptibility link...
What do we feel?
It's a rare disease which normally occurs during adulthood, Its prevalence is unknown.
Transmission: Autosomal dominant
The gene ...
0 members
0 topics
0 news
Inherited isolated adrenal ...
-
What do we feel?
It's a rare disease which normally occurs either in the neonatal PHASE/PERIOD or in babyhood, Its prevalence ...
0 members
0 topics
0 news
Dysmorphism - conductive he...
-
What do we feel?
It's a rare disease which normally occurs either in the neonatal PHASE/PERIOD or in babyhood, Its prevalence ...
0 members
0 topics
0 news
Neurodegeneration with brai...
MPAN | Mitochondrial memb...
What do we feel?
It's a rare disease which normally occurs during childhood, Its prevalence is unknown.
Transmission: Autosomal recessive
It ...
0 members
0 topics
0 news