An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation. Read more about An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation.
Interstitial deletion of chromosome 12q: genotype-phenotype correlation of two patients utilizing array comparative genomic hybridization. Read more about Interstitial deletion of chromosome 12q: genotype-phenotype correlation of two patients utilizing array comparative genomic hybridization.
Brachydactylic multiple delta phalanges plus syndrome. Read more about Brachydactylic multiple delta phalanges plus syndrome.
Trisomy 21 is associated with variable defects in cytotrophoblast differentiation along the invasive pathway. Read more about Trisomy 21 is associated with variable defects in cytotrophoblast differentiation along the invasive pathway.
Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. Read more about Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.
Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Read more about Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.
Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment. Read more about Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment.
