Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations

MeSH terms

• Abnormalities, Multiple / genetics*
• Chromosomes, Human, Pair 17 / genetics*
• Female
• Humans
• Intellectual Disability / genetics*
• Male
• Mutation / genetics*
• Phenotype*
• Pyrroline Carboxylate Reductases / genetics*