EIF4A3_RCPS_complex

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green EIF4A3_RCPS_complex STR in Mandibulofacial Acrofacial dysostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.14

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Robin sequence with cleft mandible and limb anomalies MIM#268305
  • Richieri-Costa-Pereira syndrome

Green EIF4A3_RCPS_complex STR in Pierre Robin Sequence


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.49

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Robin sequence with cleft mandible and limb anomalies MIM#268305
  • Richieri-Costa-Pereira syndrome

Green EIF4A3_RCPS_complex STR in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.117

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Robin sequence with cleft mandible and limb anomalies MIM#268305
  • Richieri-Costa-Pereira syndrome

Green EIF4A3_RCPS_complex STR in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.264

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Robin sequence with cleft mandible and limb anomalies MIM#268305
  • Richieri-Costa-Pereira syndrome

Green EIF4A3_RCPS_complex STR in Repeat Disorders


Version 0.256

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Robin sequence with cleft mandible and limb anomalies MIM#268305
  • Richieri-Costa-Pereira syndrome
Tags
  • paediatric-onset