4123
(4.0%)

familial hemophagocytic lymphohistiocytosis type 1

Irritability

Autosomal recessive inheritance

Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth.

4123
(4.0%)

mitochondrial DNA depletion syndrome 9

Hearing impairment

Autosomal recessive inheritance

Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.

4123
(4.0%)

spinocerebellar ataxia type 1

Slow saccadic eye movements

Autosomal dominant inheritance Genetic anticipation with paternal anticipation bias

Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.

4123
(4.0%)

mitochondrial complex III deficiency nuclear type 1

Hearing impairment

Autosomal recessive inheritance Mitochondrial inheritance

Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene.

4123
(4.0%)

congenital alveolar capillary dysplasia

Hydroureter

Autosomal dominant inheritance

Congenital alveolar capillary dysplasia (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.

4123
(4.0%)

familial hemophagocytic lymphohistiocytosis 2

Irritability

Autosomal recessive inheritance

Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene.