... the roof of the mouth (cleft palate), or intellectual disability. The prevalence of ophthalmo-acromelic syndrome is not ... unknown. SMOC1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...

... over time (progress). Most affected individuals have severe intellectual disability; muscle stiffness (spasticity); and a delay in developing ... down. RNASET2 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...

... gaze palsy).Individuals with Andermann syndrome usually have intellectual disability, which may be mild to severe, and some ... syndrome. SLC12A6 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...

... adulthood. Almost all individuals with beta-mannosidosis experience intellectual disability, and some have delayed motor development and seizures. ... mannosidosis. MANBA This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...

... multiple abnormalities. People with Warsaw breakage syndrome have intellectual disability that varies from mild to severe. They also ... syndrome. DDX11 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...

... body systems.Individuals with ALG1-CDG often have intellectual disability, delayed development, and weak muscle tone (hypotonia). Many ... tissues. ALG1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...

... In other conditions, encephaloceles may be associated with intellectual disability; however, most people with Knobloch syndrome have normal ... symptoms. COL18A1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...

... mental and movement abilities (psychomotor regression). They develop intellectual disability, speech difficulties, and recurrent seizures (epilepsy). Movement problems ...

... have other neurological abnormalities, such as developmental delay, intellectual disability, speech problems (dysarthria), and a small head size ( ... individuals. AAAS This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...

... the presence of extra fingers or toes (polydactyly), intellectual disability or learning problems, and abnormalities of the genitalia. ... Bardet-Biedl syndrome is typically inherited in an autosomal recessive pattern, which means both copies of a BBS ...