Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures

Disorder
OMIM #:	#614501 (Click to access OMIM database)
Disorder:	Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures
Also known as:	NEDHCS Psychomotor retardation, epilepsy, and craniofacial dysmorphism PMRED Symptomatic epilepsy and skull dysplasia
Clinical
Phenotype:	skull dysplasia, craniosynostosis, severe developmental delay, severe motor delay, intractable seizures, hypotonia,vhyporeflexia, bulbous nose, high0-arched palate, wide mouth, macroglossia, midfacial hypoplasia, micrognathia, broad jaw with protuberant angles, short hands, short tapered fingers, broad thumbs, congenital heart defects, cardiomyopathy, respiratory distress
Seen In:	Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite
Remarks:	Autosomal recessive
Mutations
1 Amish
Gene:	SNIP1
Base Change:	A>G, at nucleotide 1097
Amino Acid Change:	glu 336 --> gly
Last updated:	2023-02-02

References
Ammous Z, Rawlins LE, Jones H, Leslie JS, Wenger O, Scott E, Deline J, Herr T, Evans R, Scheid A, Kennedy J, Chioza BA, Ames RM, Cross HE, Puffenberger EG, Harries L, Baple EL, Crosby AH. (2021) A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder. PLoS Genet Sep 27;17(9):e1009803. PubMed ID: 34570759
Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA. (2012) Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One 7(1):e28936. PubMed ID: 22279524

References

Ammous Z, Rawlins LE, Jones H, Leslie JS, Wenger O, Scott E, Deline J, Herr T, Evans R, Scheid A, Kennedy J, Chioza BA, Ames RM, Cross HE, Puffenberger EG, Harries L, Baple EL, Crosby AH. (2021) A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder. PLoS Genet Sep 27;17(9):e1009803.
PubMed ID: 34570759

Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA. (2012) Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One 7(1):e28936.
PubMed ID: 22279524

Back