×
Entrez Id:
11154
Gene Symbol:
AP4S1
AP4S1
Developmental delay (disorder)
0.300
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
2555
Gene Symbol:
GABRA2
GABRA2
Developmental delay (disorder)
0.310
Biomarker
GENOMICS_ENGLAND
Amino acid uptake by the mammary gland of the lactating ewe.
678219
1978
×
Entrez Id:
55275
Gene Symbol:
VPS53
VPS53
Developmental delay (disorder)
0.300
Biomarker
GENOMICS_ENGLAND
The acute presentation of intestinal nonrotation.
2920088
1989
×
Entrez Id:
2741
Gene Symbol:
GLRA1
GLRA1
Developmental delay (disorder)
0.310
Biomarker
GENOMICS_ENGLAND
Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease.
1352015
1992
CACNA2D2
Developmental delay (disorder)
0.300
Biomarker
GENOMICS_ENGLAND
Cerebellar ataxia, seizures, premature death, and cardiac abnormalities in mice with targeted disruption of the Cacna2d2 gene.
15331424
2004
×
Entrez Id:
1282
Gene Symbol:
COL4A1
COL4A1
Developmental delay (disorder)
0.320
Biomarker
GENOMICS_ENGLAND
Clinical and brain MRI follow-up study of a family with COL4A1 mutation.
17938367
2007
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
Developmental delay (disorder)
0.310
Biomarker
GENOMICS_ENGLAND
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.
18697827
2008
×
Entrez Id:
1644
Gene Symbol:
DDC
DDC
Developmental delay (disorder)
0.300
Biomarker
GENOMICS_ENGLAND
Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up.
19172410
2009
×
Entrez Id:
63925
Gene Symbol:
ZNF335
ZNF335
Developmental delay (disorder)
0.300
Biomarker
GENOMICS_ENGLAND
Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation.
23178126
2012
×
Entrez Id:
3480
Gene Symbol:
IGF1R
IGF1R
Developmental delay (disorder)
0.320
Biomarker
GENOMICS_ENGLAND
Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations.
23045302
2013
×
Entrez Id:
23334
Gene Symbol:
SZT2
SZT2
Developmental delay (disorder)
0.320
Biomarker
GENOMICS_ENGLAND
An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability.
24324832
2013
×
Entrez Id:
201595
Gene Symbol:
STT3B
STT3B
Developmental delay (disorder)
0.300
Biomarker
GENOMICS_ENGLAND
Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.
23842455
2013
×
Entrez Id:
3703
Gene Symbol:
STT3A
STT3A
Developmental delay (disorder)
0.300
Biomarker
GENOMICS_ENGLAND
Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.
23842455
2013
×
Entrez Id:
54802
Gene Symbol:
TRIT1
TRIT1
Developmental delay (disorder)
0.300
Biomarker
GENOMICS_ENGLAND
Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA.
24901367
2014
×
Entrez Id:
10464
Gene Symbol:
PIBF1
PIBF1
Developmental delay (disorder)
0.300
Biomarker
GENOMICS_ENGLAND
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
26167768
2015
×
Entrez Id:
128637
Gene Symbol:
TBC1D20
TBC1D20
Developmental delay (disorder)
0.300
Biomarker
GENOMICS_ENGLAND
Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation.
26063829
2015
×
Entrez Id:
11154
Gene Symbol:
AP4S1
AP4S1
Developmental delay (disorder)
0.300
Biomarker
GENOMICS_ENGLAND
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.
25552650
2015
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
Developmental delay (disorder)
0.330
Biomarker
GENOMICS_ENGLAND
A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia.
27725288
2016
×
Entrez Id:
23028
Gene Symbol:
KDM1A
KDM1A
Developmental delay (disorder)
0.310
Biomarker
GENOMICS_ENGLAND
De novo variants in KDM1A underlie a new syndrome characterized by developmental delay and distinctive facial features.
26656649
2016
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
Developmental delay (disorder)
0.310
Biomarker
GENOMICS_ENGLAND
Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?
26919706
2016
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
Developmental delay (disorder)
0.310
Biomarker
GENOMICS_ENGLAND
Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?
26919706
2016
×
Entrez Id:
1729
Gene Symbol:
DIAPH1
DIAPH1
Developmental delay (disorder)
0.300
Biomarker
GENOMICS_ENGLAND
Recently, however, a homozygous nonsense DIAPH1 mutation (c.2332C4T; p.Q778X) was reported in five siblings in a single family affected by microcephaly, blindness, early onset seizures, developmental delay , and bronchiectasis.
26463574
2016
×
Entrez Id:
18
Gene Symbol:
ABAT
ABAT
Developmental delay (disorder)
0.300
Biomarker
GENOMICS_ENGLAND
Personalized medicine approach confirms a milder case of ABAT deficiency.
27903293
2016
×
Entrez Id:
51594
Gene Symbol:
NBAS
NBAS
Developmental delay (disorder)
0.420
Biomarker
GENOMICS_ENGLAND
Patient 1: NBAS c.5741G>A p.(Arg1914His); c.3010C>T p.(Arg1004*) in a 10-year old boy with significant short stature, bone fragility requiring treatment with bisphosphonates, developmental delay and immunodeficiency.
27789416
2017
×
Entrez Id:
2741
Gene Symbol:
GLRA1
GLRA1
Developmental delay (disorder)
0.310
Biomarker
GENOMICS_ENGLAND
Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients.
27843043
2017