|
rs1057517686
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy.
|
27640307 |
2016 |
|
rs1057519429
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Exome sequencing in five individuals with severe early onset ataxia identified one novel variant (p.R1673P), in a girl with global developmental delay and progressive cerebellar atrophy, and a recurrent, de novo p.R1664Q variant, in four individuals with global developmental delay, hypotonia, and ophthalmologic abnormalities.
|
28742085 |
2017 |
|
rs369867819
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We identified a homozygous stop-gain variant in LRRC32 (c.1630C>T; p.(Arg544Ter)) in two families with developmental delay, cleft palate, and proliferative retinopathy.
|
30976112 |
2019 |
|
rs80356616
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We report the response to sulfonylurea treatment in a boy with neonatal diabetes and marked developmental delay resulting from the KCNJ11 mutation V59M.
|
17047922 |
2006 |
|
rs80356616
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In contrast, developmental delay in addition to diabetes was seen in four of five probands with the V59M mutation and two of four with the R201C mutation.
|
16609879 |
2006 |
|
rs80356616
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Four of the five patients with mutations had neurological features: the patient with the C166F mutation had marked developmental delay, severe generalised epilepsy, hypotonia and muscle weakness; mild developmental delay was present in the patient with the V59M mutation; one patient with the R201H mutation had acute and chronic neurological consequences of cerebral oedema and another had diabetic neuropathy from chronic hyperglycaemia.
|
16670688 |
2006 |
|
rs80356624
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Recent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium (K(ATP)) channel, cause permanent neonatal diabetes either alone (R201C, R201H) or in association with developmental delay, muscle weakness and epilepsy (V59G,V59M).
|
16087682 |
2005 |
|
rs80356624
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Four of the five patients with mutations had neurological features: the patient with the C166F mutation had marked developmental delay, severe generalised epilepsy, hypotonia and muscle weakness; mild developmental delay was present in the patient with the V59M mutation; one patient with the R201H mutation had acute and chronic neurological consequences of cerebral oedema and another had diabetic neuropathy from chronic hyperglycaemia.
|
16670688 |
2006 |
|
rs104894228
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The individuals with p.G13C had many typical findings including polyhydramnios, failure-to-thrive, HCM, macrocephaly with posterior fossa crowding, and developmental delay.
|
21438134 |
2011 |
|
rs104894421
|
|
|
0.010 |
GeneticVariation |
BEFREE |
When combined with the otherwise mild R278H mutation, the activity is reduced to a level similar to other LIG4 patients who display immunodeficiency and developmental delay.
|
15333585 |
2004 |
|
rs104894884
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel p.Gly8Arg and p.Arg37Ser hemizygous mutations in NDUFA1 were identified in two unrelated male patients presenting with Leigh's syndrome and with myoclonic epilepsy and developmental delay, respectively.
|
17262856 |
2007 |
|
rs104894885
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel p.Gly8Arg and p.Arg37Ser hemizygous mutations in NDUFA1 were identified in two unrelated male patients presenting with Leigh's syndrome and with myoclonic epilepsy and developmental delay, respectively.
|
17262856 |
2007 |
|
rs1057517718
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results show that p.Tyr715Cys is a gain-of-function CLCN7 variant associated with developmental delay, organomegaly, and hypopigmentation resulting from lysosomal hyperacidity, abnormal storage, and enlarged intracellular vacuoles.
|
31155284 |
2019 |
|
rs1057517846
|
|
|
0.010 |
GeneticVariation |
BEFREE |
W44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report.
|
27495153 |
2016 |
|
rs1135402725
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The clinical phenotype of the twenty R446* homozygotes was relatively homogeneous, with lactic acidosis crisis in the first days or months of life as the most common initial presentation (15/20 patients) and delayed psychomotor development and/or seizures in infancy as the leading manifestations in a smaller group (5/20 patients).
|
25087164 |
2015 |
|
rs113994097
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Four children, 2 related and 2 unrelated, with the novel p.P1073L mutation (all patients) and either the p.A467T (2 patients), p.G848S (1 patient), or p.W748S (1 patient) mutation presented with psychomotor delay, encephalopathy, and liver failure.
|
20142534 |
2010 |
|
rs113994098
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Four children, 2 related and 2 unrelated, with the novel p.P1073L mutation (all patients) and either the p.A467T (2 patients), p.G848S (1 patient), or p.W748S (1 patient) mutation presented with psychomotor delay, encephalopathy, and liver failure.
|
20142534 |
2010 |
|
rs121434618
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The severe male X-linked recessive microphthalmia syndrome ('Lenz') usually includes developmental delay in addition to the eye findings and is caused by hypomorphic BCOR variants, mainly by a specific missense variant c.254C > T, p.(Pro85Leu).
|
29974297 |
2019 |
|
rs121908332
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Exome sequencing in four new patients with developmental delay and central hypotonia revealed de novo G236R mutations.
|
27151206 |
2016 |
|
rs121913105
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.
|
10053006 |
1999 |
|
rs1285524167
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report the response to sulfonylurea treatment in a boy with neonatal diabetes and marked developmental delay resulting from the KCNJ11 mutation V59M.
|
17047922 |
2006 |
|
rs1310897090
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Patient 2: NBAS c.5741G>A p.(Arg1914His); c.2032C>T p.(Gln678*) in a 5-year old boy with similar presenting features, bone fragility, mild developmental delay, abnormal liver function tests and immunodeficiency.
|
27789416 |
2017 |
|
rs142375870
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report the first patient with two compound heterozygous novel MAG mutations (p.A151V and p.S373R) and early developmental delay with a progressive complex phenotype characterized by spastic paraplegia, peripheral sensorimotor neuropathy, intellectual disability, and sensorial dysfunctions with severe optic atrophy and hearing involvement.
|
31402626 |
2019 |
|
rs144553163
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report the first patient with two compound heterozygous novel MAG mutations (p.A151V and p.S373R) and early developmental delay with a progressive complex phenotype characterized by spastic paraplegia, peripheral sensorimotor neuropathy, intellectual disability, and sensorial dysfunctions with severe optic atrophy and hearing involvement.
|
31402626 |
2019 |
|
rs145536528
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To date, only one patient has been reported with a de novo variant in PUF60 that probably affects function (c.505C>T leading to p.(His169Tyr)) associated with DD, microcephaly, craniofacial and cardiac defects.
|
27804958 |
2016 |