All individuals with variants in gene NAE1

4 entries on 1 page. Showing entries 1 - 4.
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00428772 Pat1 PubMed: Muffels 2023, Journal: Muffels 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents/ F no Netherlands - - - - - ID see paper; ..., birth 40w, weight 2,615g (-1.8 SDS); 8y-height 116cm (-2.53 SDS); 8y-OFC 51cm (-0.47 SDS); no cleft palate; asymmetrical palate; ventricular septal defect, coarctation aorta; severe developmental delay; seizures; hypotonia during infancy; underdeveloped corpus callosum; decreased myelination; enlarged ventricles; loss of milestones after infections; neurodegeneration; decreased bone density; joint dislocation; joint hyperextensibility; no joint stiffness; resistant to sunburns; hepatomegaly at infancy; splenomegaly at infancy; leukopenia; AST/ALT increase during infections; delayed closure of ischiopubic rami; recurrent infections respiratory, urinary tract, skin; hypoplastic schiopubic rami (HP:0008822); developmental stagnation at onset seizures (HP:0006834); infection associated lymphopenia (HP:0410256); reduced proportion of naive T cells (HP:0031397); increased lymphocyte apoptosis (HP:0030887); transient lymphopenia (HP:0410255); decreased proportion memory B cells (HP:0030374); abnormal B cell subset distribution (HP:0025539); recurrent joint dislocation (HP:0031869); developmental stagnation (HP:0007281); large fleshy ears (HP:0002265); hypoplastic pubic bone (HP:0003173); abnormal B cell count (HP:0010975); facial erythema (HP:0001041); narrow palpebral fissure (HP:0045025); almond-shaped palpebral fissure (HP:0007874); progressive neurologic deterioration (HP:0002344); abnormal shape palpebral fissure (HP:0200005); decreased circulating total IgM (HP:0002850); aplasia/hypoplasia involving the pelvis (HP:0009103); abnormal T cell subset distribution (HP:0025540); neurodegeneration (HP:0002180); abnormal T cell count (HP:0011839); lymphopenia (HP:0001888) 2 1 Johan den Dunnen
00428773 Pat2 PubMed: Muffels 2023, Journal: Muffels 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents/ M - Netherlands - - - - - ID see paper; ..., birth 36w, weight 2,767g (0.05 SDS); 13y-height 150cm (-1.5 SDS); 13y-OFC 54cm (-0.59 SDS); cleft palate; asymmetrical palate; no heart defects; moderate developmental delay; no seizures; no hypotonia during infancy; underdeveloped corpus callosum; decreased myelination; no enlarged ventricles; loss of milestones after infections; neurodegeneration; decreased bone density; joint dislocation; joint hyperextensibility; no joint stiffness; resistant to sunburns; no hepatomegaly at infancy; splenomegaly at infancy; leukopenia; no AST/ALT increase; delayed closure of ischiopubic rami; recurrent infections respiratory, skin; hypoplastic schiopubic rami (HP:0008822); no developmental stagnation at onset seizures (-HP:0006834); infection associated lymphopenia (HP:0410256); reduced proportion of naive T cells (HP:0031397); increased lymphocyte apoptosis (HP:0030887); transient lymphopenia (HP:0410255); decreased proportion memory B cells (HP:0030374); abnormal B cell subset distribution (HP:0025539); recurrent joint dislocation (HP:0031869); developmental stagnation (HP:0007281); large fleshy ears (HP:0002265); hypoplastic pubic bone (HP:0003173); abnormal B cell count (HP:0010975); no facial erythema (-HP:0001041); narrow palpebral fissure (HP:0045025); almond-shaped palpebral fissure (HP:0007874); progressive neurologic deterioration (HP:0002344); abnormal shape palpebral fissure (HP:0200005); decreased circulating total IgM (HP:0002850); aplasia/hypoplasia involving the pelvis (HP:0009103); abnormal T cell subset distribution (HP:0025540); neurodegeneration (HP:0002180); abnormal T cell count (HP:0011839); lymphopenia (HP:0001888) 1 1 Johan den Dunnen
00428774 Pat3 PubMed: Muffels 2023, Journal: Muffels 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents/ M yes United States - - - - - ID see paper; ..., birth 37w, weight 2,140g (-1.6 SDS); 2y5m-height 91cm (-1 SDS); 2y5m-OFC 47.3cm (-1.5 SDS); no cleft palate; symmetrical palate; no heart defects; moderate developmental delay; seizures; hypotonia during infancy; underdeveloped corpus callosum; decreased myelination; enlarged ventricles; loss of milestones after infections; neurodegeneration; decreased bone density; no joint dislocation; no joint hyperextensibility; no joint stiffness; resistant to sunburns; hepatomegaly at infancy; splenomegaly at infancy; no leukopenia; no AST/ALT increase; recurrent infections respiratory; hypoplastic schiopubic rami (HP:0008822); developmental stagnation at onset seizures (HP:0006834); no infection associated lymphopenia (-HP:0410256); transient lymphopenia (HP:0410255); decreased proportion memory B cells (HP:0030374); developmental stagnation (HP:0007281); no large fleshy ears (-HP:0002265); hypoplastic pubic bone (HP:0003173); no facial erythema (-HP:0001041); narrow palpebral fissure (HP:0045025); almond-shaped palpebral fissure (HP:0007874); progressive neurologic deterioration (HP:0002344); abnormal shape palpebral fissure (HP:0200005); aplasia/hypoplasia involving the pelvis (HP:0009103); neurodegeneration (HP:0002180); abnormal T cell count (HP:0011839) 1 1 Johan den Dunnen
00428775 Pat4 PubMed: Muffels 2023, Journal: Muffels 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents/ F no United States - - - - - ID see paper; ..., birth 40w, weight 2,300g (-2.48 SDS); 6y6m-height 97cm (-5.9 SDS); 6y6m-OFC 48.7cm (-1.73 SDS); no cleft palate; no heart defects; severe developmental delay; seizures; hypotonia during infancy; underdeveloped corpus callosum; decreased myelination; enlarged ventricles; loss of milestones after infections; neurodegeneration; decreased bone density; no joint dislocation; joint hyperextensibility; joint stiffness; no resistant to sunburns; no hepatomegaly at infancy; no splenomegaly at infancy; leukopenia; no AST/ALT increase; recurrent infections respiratory, urinary tract; hypoplastic schiopubic rami (HP:0008822); developmental stagnation at onset seizures (HP:0006834); infection associated lymphopenia (HP:0410256); no transient lymphopenia (-HP:0410255); developmental stagnation (HP:0007281); large fleshy ears (HP:0002265); hypoplastic pubic bone (HP:0003173); no facial erythema (-HP:0001041); narrow palpebral fissure (HP:0045025); almond-shaped palpebral fissure (HP:0007874); progressive neurologic deterioration (HP:0002344); abnormal shape palpebral fissure (HP:0200005); aplasia/hypoplasia involving the pelvis (HP:0009103); neurodegeneration (HP:0002180); abnormal T cell count (HP:0011839); short stature (-5.0 SD); no microcephaly; facial abnormalities; wide nasal bridge; long philtrum; anteverted nares; large ears; epicanthal folds; narrow palpebral fissures; thick lower lip vermilion; broad philtrum; lymphopenia; recurrent infections; ischiopubic hypoplasia; neurological abnormalities; seizures; seizure triggered by fever; psychomotor development; stagnates.; mental decline; no behavioral problems; learning disabilities; global brain atrophy on mri; no microcephaly; limited knee extension; dysgenesis hippocampus 1 1 Johan den Dunnen
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