×
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:
9091
Gene Symbol:
PIGQ
PIGQ
Developmental delay (disorder)
0.400
Biomarker
GENOMICS_ENGLAND
PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype.
31148362
2019
×
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:
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:
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:
6942
Gene Symbol:
TCF20
TCF20
Developmental delay (disorder)
0.310
Biomarker
GENOMICS_ENGLAND
Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.
30525188
2019
×
Entrez Id:
2558
Gene Symbol:
GABRA5
GABRA5
Developmental delay (disorder)
0.310
Biomarker
GENOMICS_ENGLAND
Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies.
31056671
2019
×
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
×
Entrez Id:
2782
Gene Symbol:
GNB1
GNB1
Developmental delay (disorder)
0.310
Biomarker
GENOMICS_ENGLAND
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.
28087732
2017
×
Entrez Id:
5879
Gene Symbol:
RAC1
RAC1
Developmental delay (disorder)
0.310
Biomarker
GENOMICS_ENGLAND
We report seven individuals with distinct de novo missense RAC1 mutations and varying degrees of developmental delay , brain malformations, and additional phenotypes.
28886345
2017
×
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:
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:
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
×
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:
26007
Gene Symbol:
TKFC
TKFC
Developmental delay (disorder)
0.300
Biomarker
GENOMICS_ENGLAND
Shared phenotypes between affected individuals with TKFC deficiency include cataracts and developmental delay , associated with cerebellar hypoplasia in one case.
32004446
2020
×
Entrez Id:
57551
Gene Symbol:
TAOK1
TAOK1
Developmental delay (disorder)
0.300
Biomarker
GENOMICS_ENGLAND
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.
31230721
2019
×
Entrez Id:
87178
Gene Symbol:
PNPT1
PNPT1
Developmental delay (disorder)
0.300
Biomarker
GENOMICS_ENGLAND
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants.
31752325
2019
×
Entrez Id:
8560
Gene Symbol:
DEGS1
DEGS1
Developmental delay (disorder)
0.300
Biomarker
GENOMICS_ENGLAND
DEGS1 variant causes neurological disorder.
31186544
2019
×
Entrez Id:
91801
Gene Symbol:
ALKBH8
ALKBH8
Developmental delay (disorder)
0.300
Biomarker
GENOMICS_ENGLAND
Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification.
31079898
2019
×
Entrez Id:
86
Gene Symbol:
ACTL6A
ACTL6A
Developmental delay (disorder)
0.300
Biomarker
GENOMICS_ENGLAND
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.
28649782
2017
×
Entrez Id:
8884
Gene Symbol:
SLC5A6
SLC5A6
Developmental delay (disorder)
0.300
Biomarker
GENOMICS_ENGLAND
Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child.
27904971
2017
×
Entrez Id:
6712
Gene Symbol:
SPTBN2
SPTBN2
Developmental delay (disorder)
0.300
Biomarker
GENOMICS_ENGLAND
Progressive SCAR14 with unclear speech, developmental delay , tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain.
28636205
2017