NED with dysmorphic facies and distal skeletal anomalies (NEDDFSA)
DEGCAGS syndrome (DEGCAGS)
NED with craniofacial dysmorphism and skeletal defects (NEDCDS)
NED with dysmorphic facies and skeletal and brain abnormalities (NEDDFSB)
NED with hypotonia, dysmorphic facies, skeletal anomalies, and seizures (NEDFSS)
NED with short stature, prominent forehead, and feeding difficulties (NEDSFF)

Neurodevelopmental disorder with dysmorphic facies [DS:H02535]
Syndromic neurodevelopmental disorder [DS:H02459]

Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marcais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M, Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Ceraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Am J Hum Genet 104:319-330 (2019)
DOI:10.1016/j.ajhg.2018.12.007

Bertoli-Avella AM, Kandaswamy KK, Khan S, Ordonez-Herrera N, Tripolszki K, Beetz C, Rocha ME, Urzi A, Hotakainen R, Leubauer A, Al-Ali R, Karageorgou V, Moldovan O, Dias P, Alhashem A, Tabarki B, Albalwi MA, Alswaid AF, Al-Hassnan ZN, Alghamdi MA, Hadipour Z, Hadipour F, Al Hashmi N, Al-Gazali L, Cheema H, Zaki MS, Huning I, Alfares A, Eyaid W, Al Mutairi F, Alfadhel M, Alkuraya FS, Al-Sannaa NA, AlShamsi AM, Ameziane N, Rolfs A, Bauer P

Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.

Genet Med 23:1551-1568 (2021)
DOI:10.1038/s41436-021-01159-0

Reichert SC, Li R, A Turner S, van Jaarsveld RH, Massink MPG, van den Boogaard MH, Del Toro M, Rodriguez-Palmero A, Fourcade S, Schluter A, Planas-Serra L, Pujol A, Iascone M, Maitz S, Loong L, Stewart H, De Franco E, Ellard S, Frank J, Lewandowski R

HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.

Clin Genet 98:91-98 (2020)
DOI:10.1111/cge.13765

Duijkers FA, McDonald A, Janssens GE, Lezzerini M, Jongejan A, van Koningsbruggen S, Leeuwenburgh-Pronk WG, Wlodarski MW, Moutton S, Tran-Mau-Them F, Thauvin-Robinet C, Faivre L, Monaghan KG, Smol T, Boute-Benejean O, Ladda RL, Sell SL, Bruel AL, Houtkooper RH, MacInnes AW

HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans.

Am J Hum Genet 104:1040-1059 (2019)
DOI:10.1016/j.ajhg.2019.03.024

de Sainte Agathe JM, Van-Gils J, Lasseaux E, Arveiler B, Lacombe D, Pfirrmann C, Raclet V, Gaston L, Plaisant C, Aupy J, Trimouille A

Confirmation and Expansion of the Phenotype Associated with the Recurrent p.Val837Met Variant in TRPM3.

Eur J Med Genet 63:103942 (2020)
DOI:10.1016/j.ejmg.2020.103942

Shankar SP, Grimsrud K, Lanoue L, Egense A, Willis B, Horberg J, AlAbdi L, Mayer K, Utkur K, Monaghan KG, Krier J, Stoler J, Alnemer M, Shankar PR, Schaffrath R, Alkuraya FS, Brinkmann U, Eriksson LA, Lloyd K, Rauen KA

A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.

Genet Med 24:1567-1582 (2022)
DOI:10.1016/j.gim.2022.03.014