PJA1

Panel	Reviews	Mode of inheritance	Details
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Amber PJA1 in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.68	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Intellectual disability trigonocephaly Tags founder
Amber PJA1 in Mendeliome Version 1.1902	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Intellectual disability trigonocephaly
Amber PJA1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Intellectual disability trigonocephaly Tags founder
Amber PJA1 in Fetal anomalies Version 1.255	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Trigonocephaly, intellectual disability

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