Rare diseases

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 ...

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

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 ...

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 ...

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, ...

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 ...

Microtriplication 11q24.1

Tetrasomy 11q24.1

What do we feel?

It's a rare disease which normally occurs during childhood, Its prevalence is unknown.

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 ...

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 ...

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 ...

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 ...

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 ...

Pages