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El síndrome se transmite como trastorno autosómico recesivo. Se produce por mutaciones en el gen PTF1A (10p12.3). El diagnóstico prenatal es posible por demostración dela ausencia de cerebelo y retraso severo del crecimiento intrauterino. Todos los pacientes murieron en el período neonatal."],"subClassOf":["http://purl.bioontology.org/ontology/SCTSPA/363104002","http://purl.bioontology.org/ontology/SCTSPA/363070008","http://purl.bioontology.org/ontology/SCTSPA/253172000","http://purl.bioontology.org/ontology/SCTSPA/363235000","http://purl.bioontology.org/ontology/SCTSPA/65094009","http://purl.bioontology.org/ontology/SCTSPA/85995004","http://purl.bioontology.org/ontology/SCTSPA/609565001"],"parents":[{"id":"http://purl.bioontology.org/ontology/SCTSPA/363104002","prefLabel":"trastorno hereditario del sistema endocrino","synonym":["trastorno hereditario del sistema endocrino 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caracterizado por diabetes mellitus neonatal asociada con agenesia de cerebelo y/o pancreática. Se describió en cuatro pacientes: dos hermanas y una prima pertenecientes a una familia paquistaní cosanguínea y un caso no emparentado (también hijo de padres cosanguíneos). Los pacientes presentan, además, dismorfismo facial (cara triangular, mentón pequeño, orejas de implantación baja), contracturas en flexión de brazos y piernas, muy escaso tejido adiposo subcutáneo e hipoplasia del nervio óptico. Uno de los pacientes tenía agenesia pancreática y en los otros se sospechó hipoplasia pancreática. El síndrome se transmite como trastorno autosómico recesivo. Se produce por mutaciones en el gen PTF1A (10p12.3). El diagnóstico prenatal es posible por demostración dela ausencia de cerebelo y retraso severo del crecimiento intrauterino. 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