Harmonizome 3.0

Microcephaly with digital anomalies

Mammary-digital-nail syndrome

oral-facial-digital syndrome 1

This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. [provided by RefSeq, Aug 2016]

Osseous dysplasia, digital, with facial pigmentary defects and multiple frenula

benign familial infantile convulsions

Nystagmus 5, infantile periodic alternating

ceroid-lipofuscinosis, neuronal 6, late infantile, variant

This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008]

Convulsions, benign familial infantile, 4

polycystic kidney disease, infantile severe, with tuberous sclerosis

Benign familial infantile convulsions-2

Infantile myoclonic epilepsy

glaucoma 3, primary infantile, B

Pyloric stenosis, infantile hypertrophic, 2

myasthenia gravis, familial infantile, 1

Pyloric stenosis, infantile hypertrophic, 5

Pyloric stenosis, infantile hypertrophic, 4

Pyloric stenosis, infantile hypertrophic, 3