MCID: BLL001
MIFTS: 51

Baller-Gerold Syndrome

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Baller-Gerold Syndrome

MalaCards integrated aliases for Baller-Gerold Syndrome:

Name: Baller-Gerold Syndrome 53 12 23 49 24 55 71 36 28 13 51 14 69
Craniosynostosis-Radial Aplasia Syndrome 53 49 24 71
Craniosynostosis with Radial Defects 53 49 24 71
Bgs 53 49 24 71
Craniosynostosis Radial Aplasia Syndrome 41

Characteristics:

Orphanet epidemiological data:

55
baller-gerold syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
baller-gerold syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Baller-Gerold Syndrome

NIH Rare Diseases : 49 Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands, sometimes referred to as radial ray anomalies. Many cases of Baller-Gerold syndrome are caused by mutations in the RECQL4 gene. These cases are inherited in an autosomal recessive manner. In a few reported cases, the characteristic features of Baller-Gerold syndrome have been associated with prenatal exposure to a drug called sodium valproate which is used to treat epilepsy and certain psychiatric disorders.  Treatment may include surgery for treatment of craniosynostosis or reconstruction of the index finger to functional thumb. The symptoms of Baller-Gerold syndrome overlap with features of Rothmund-Thomson syndrome and RAPADILINO syndrome which are also caused by the RECQL4 gene. Researchers are trying to determine if these conditions are separate disorders or part of a single syndrome with overlapping signs and symptoms. Last updated: 5/25/2011

MalaCards based summary : Baller-Gerold Syndrome, also known as craniosynostosis-radial aplasia syndrome, is related to rapadilino syndrome and fanconi anemia, complementation group a, and has symptoms including hypertelorism, frontal bossing and high palate. An important gene associated with Baller-Gerold Syndrome is RECQL4 (RecQ Like Helicase 4), and among its related pathways/superpathways are DNA Damage and Homologous DNA Pairing and Strand Exchange. Affiliated tissues include bone, heart and kidney, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and cellular

OMIM : 53 The cardinal features of the Baller-Gerold syndrome are craniosynostosis and radial aplasia (Galea and Tolmie, 1990). Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome (SCS; 101400). (218600)

UniProtKB/Swiss-Prot : 71 Baller-Gerold syndrome: An autosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent carpals, metacarpals and phalanges. Some patients manifest poikiloderma. Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome.

Genetics Home Reference : 24 Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands.

Disease Ontology : 12 A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone.

GeneReviews: NBK1204

Related Diseases for Baller-Gerold Syndrome

Graphical network of the top 20 diseases related to Baller-Gerold Syndrome:



Diseases related to Baller-Gerold Syndrome

Symptoms & Phenotypes for Baller-Gerold Syndrome

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
epicanthal folds

Growth Height:
short stature

Head And Neck Nose:
prominent nasal bridge

Genitourinary External Genitalia Female:
rectovaginal fistula

Head And Neck Head:
turribrachycephaly

Neurologic Central Nervous System:
mental retardation

Genitourinary Kidneys:
renal anomalies

Skeletal Limbs:
absent or hypoplastic radii
short, curved ulna
fused carpal bones
absent carpals, metacarpals, and phalanges

Head And Neck Mouth:
high palate
microstomia

Head And Neck Face:
micrognathia
flattened forehead

Head And Neck Ears:
low-set, posteriorly rotated ears
conductive hearing loss

Abdomen External Features:
anteriorly placed anus
perineal fistula
imperforate anus

Skeletal Spine:
vertebral anomalies

Cardiovascular Heart:
congenital heart defects

Skeletal Skull:
craniosynostosis (coronal, metopic, lambdoidal)

Skeletal Hands:
absent or hypoplastic thumbs


Clinical features from OMIM:

218600

Human phenotypes related to Baller-Gerold Syndrome:

55 31 (show top 50) (show all 84)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000316
2 frontal bossing 55 31 hallmark (90%) Very frequent (99-80%) HP:0002007
3 high palate 55 31 frequent (33%) Frequent (79-30%) HP:0000218
4 nystagmus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000639
5 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
6 bowing of the long bones 55 31 frequent (33%) Frequent (79-30%) HP:0006487
7 malabsorption 55 31 frequent (33%) Frequent (79-30%) HP:0002024
8 short nose 55 31 frequent (33%) Frequent (79-30%) HP:0003196
9 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
10 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
11 micrognathia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000347
12 epicanthus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000286
13 intrauterine growth retardation 55 31 frequent (33%) Frequent (79-30%) HP:0001511
14 failure to thrive in infancy 55 31 hallmark (90%) Very frequent (99-80%) HP:0001531
15 prominent nasal bridge 55 31 occasional (7.5%) Occasional (29-5%) HP:0000426
16 broad forehead 55 31 occasional (7.5%) Occasional (29-5%) HP:0000337
17 abnormality of the metacarpal bones 55 31 frequent (33%) Frequent (79-30%) HP:0001163
18 narrow face 55 31 occasional (7.5%) Occasional (29-5%) HP:0000275
19 narrow mouth 55 31 frequent (33%) Frequent (79-30%) HP:0000160
20 conductive hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000405
21 anal atresia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002023
22 vesicoureteral reflux 55 31 occasional (7.5%) Occasional (29-5%) HP:0000076
23 urogenital fistula 55 31 occasional (7.5%) Occasional (29-5%) HP:0100589
24 lymphoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002665
25 proptosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000520
26 large fontanelles 55 31 hallmark (90%) Very frequent (99-80%) HP:0000239
27 narrow nasal bridge 55 31 occasional (7.5%) Occasional (29-5%) HP:0000446
28 hypotelorism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000601
29 osteosarcoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002669
30 anteriorly placed anus 55 31 frequent (33%) Frequent (79-30%) HP:0001545
31 hydronephrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000126
32 abnormal localization of kidney 55 31 occasional (7.5%) Occasional (29-5%) HP:0100542
33 brachyturricephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000244
34 aplasia/hypoplasia of the thumb 55 31 hallmark (90%) Very frequent (99-80%) HP:0009601
35 aplasia/hypoplasia of the patella 55 31 frequent (33%) Frequent (79-30%) HP:0006498
36 aplasia/hypoplasia of the radius 55 31 hallmark (90%) Very frequent (99-80%) HP:0006501
37 abnormality of the carpal bones 55 31 frequent (33%) Frequent (79-30%) HP:0001191
38 poikiloderma 55 31 occasional (7.5%) Occasional (29-5%) HP:0001029
39 seizures 31 HP:0001250
40 agenesis of corpus callosum 31 HP:0001274
41 hydrocephalus 31 HP:0000238
42 intellectual disability 31 HP:0001249
43 abnormal vertebral morphology 31 HP:0003468
44 optic atrophy 31 HP:0000648
45 brachycephaly 55 Very frequent (99-80%)
46 strabismus 31 HP:0000486
47 growth delay 55 Very frequent (99-80%)
48 myopia 31 HP:0000545
49 underdeveloped nasal alae 31 HP:0000430
50 coronal craniosynostosis 31 HP:0004440

GenomeRNAi Phenotypes related to Baller-Gerold Syndrome according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.1 RECQL5 WRN BRIP1 ERCC1 RECQL RECQL4

MGI Mouse Phenotypes related to Baller-Gerold Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.15 ERCC1 FANCB RECQL RECQL4 RECQL5 SALL1
2 embryo MP:0005380 9.86 CECR2 COL2A1 DDX11 ERCC1 RECQL4 SALL1
3 growth/size/body region MP:0005378 9.81 CECR2 COL2A1 DDX11 ERCC1 FANCB RECQL4
4 craniofacial MP:0005382 9.72 CECR2 COL2A1 RECQL4 TWIST1 WRN
5 limbs/digits/tail MP:0005371 9.35 TWIST1 WRN COL2A1 RECQL4 SALL1
6 mortality/aging MP:0010768 9.28 CECR2 COL2A1 DDX11 ERCC1 RECQL4 SALL1

Drugs & Therapeutics for Baller-Gerold Syndrome

Search Clinical Trials , NIH Clinical Center for Baller-Gerold Syndrome

Cochrane evidence based reviews: craniosynostosis radial aplasia syndrome

Genetic Tests for Baller-Gerold Syndrome

Genetic tests related to Baller-Gerold Syndrome:

# Genetic test Affiliating Genes
1 Baller-Gerold Syndrome 28 RECQL4

Anatomical Context for Baller-Gerold Syndrome

MalaCards organs/tissues related to Baller-Gerold Syndrome:

38
Bone, Heart, Kidney

Publications for Baller-Gerold Syndrome

Articles related to Baller-Gerold Syndrome:

(show all 40)
# Title Authors Year
1
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes. ( 24635570 )
2015
2
Identification of novel compound heterozygous RECQL4 mutations and prenatal diagnosis of Baller-Gerold syndrome: a case report. ( 25966250 )
2015
3
Baller-gerold syndrome a rare cause of heart-hand syndrome. ( 22347665 )
2011
4
Baller-Gerold syndrome associated with dextrocardia. ( 21614991 )
2011
5
Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: both phenotypes in the same family. ( 20196403 )
2009
6
A patient with Baller-Gerold syndrome and midline NK/T lymphoma. ( 19291770 )
2009
7
Radial, renal and craniofacial anomalies: Baller-Gerold syndrome. ( 19753208 )
2008
8
Baller-Gerold syndrome: Further evidence for association with prenatal exposure to valproate. ( 19966981 )
2008
9
Fetal exposure to sodium valproate associated with Baller-Gerold syndrome: case report and review of the literature. ( 15789214 )
2006
10
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. ( 15964893 )
2006
11
Baller-Gerold syndrome after fetal exposure to sodium valproate. ( 15732083 )
2005
12
Expanding the phenotypic spectrum of the Baller-Gerold syndrome. ( 14577674 )
2003
13
Baller-Gerold syndrome. ( 12557968 )
2002
14
Another TWIST on Baller-Gerold syndrome. ( 11754069 )
2001
15
A case of Baller-Gerold syndrome. ( 10327256 )
1999
16
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. ( 9934984 )
1999
17
Baller Gerold syndrome and Fanconi anaemia. ( 9450894 )
1998
18
Immunodeficiency in a patient with Baller-Gerold syndrome: a reason for early demise? ( 9786296 )
1998
19
Long first metacarpal in monozygotic twins with probable Baller-Gerold syndrome. ( 9856554 )
1998
20
Baller-Gerold syndrome associated with congenital portal venous malformation. ( 9733037 )
1998
21
Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome. ( 8741921 )
1996
22
A case of Baller-Gerold syndrome following in vitro fertilization-embryo transfer. ( 8825173 )
1996
23
Is there a Baller-Gerold syndrome? ( 8741920 )
1996
24
Osteosarcoma in a 16-year-old boy with Baller-Gerold syndrome. ( 7606324 )
1995
25
Mid-portion agenesis of corpus callosum in a presumed Baller-Gerold syndrome. ( 8552221 )
1995
26
Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature. ( 7957363 )
1994
27
Fanconi anemia in a child previously diagnosed as Baller-Gerold syndrome. ( 8160763 )
1994
28
Baller-Gerold syndrome: a postmortem examination. ( 8291562 )
1993
29
Further delineation of the Baller-Gerold syndrome. ( 8465861 )
1993
30
Magnetic resonance imaging to visualize the internal anatomy in the Baller-Gerold syndrome. ( 8349962 )
1993
31
Baller-Gerold Syndrome ( 20301383 )
1993
32
The Baller-Gerold syndrome. ( 1583650 )
1992
33
Baller-Gerold syndrome: case report and clinical and radiological review. ( 1536180 )
1992
34
Baller-Gerold syndrome associated with congenital hydrocephalus. ( 1951434 )
1991
35
The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome. ( 2359099 )
1990
36
Baller-Gerold syndrome: an 11th case of craniosynostosis and radial aplasia. ( 2260585 )
1990
37
Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia). ( 2074565 )
1990
38
Brief clinical report: a sixth report (eighth case) of craniosynostosis-radial aplasia (Baller-Gerold) syndrome. ( 7315870 )
1981
39
Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome. ( 7363501 )
1980
40
Craniosynostosis-radial aplasia: Baller-Gerold syndrome. ( 517480 )
1979

Variations for Baller-Gerold Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Baller-Gerold Syndrome:

71
# Symbol AA change Variation ID SNP ID
1 RECQL4 p.Arg1021Trp VAR_026591

ClinVar genetic disease variations for Baller-Gerold Syndrome:

6 (show all 25)
# Gene Variation Type Significance SNP ID Assembly Location
1 RECQL4 NM_004260.3(RECQL4): c.2476C> T (p.Arg826Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833851 GRCh37 Chromosome 8, 145738509: 145738509
2 RECQL4 NM_004260.3(RECQL4): c.3072delA (p.Val1026Cysfs) deletion Pathogenic/Likely pathogenic rs386833852 GRCh37 Chromosome 8, 145737691: 145737691
3 RECQL4 NM_004260.3(RECQL4): c.2464-1G> C single nucleotide variant Pathogenic rs398124117 GRCh37 Chromosome 8, 145738522: 145738522
4 RECQL4 NM_004260.3(RECQL4): c.1048_1049delAG (p.Arg350Glyfs) deletion Pathogenic rs746636748 GRCh37 Chromosome 8, 145741454: 145741455
5 RECQL4 NM_004260.3(RECQL4): c.2269C> T (p.Gln757Ter) single nucleotide variant Pathogenic rs137853229 GRCh37 Chromosome 8, 145738796: 145738796
6 RECQL4 NM_004260.3(RECQL4): c.2492_2493delAT (p.His831Argfs) deletion Pathogenic rs752729755 GRCh37 Chromosome 8, 145738492: 145738493
7 RECQL4 NM_004260.3(RECQL4): c.1573delT (p.Cys525Alafs) deletion Pathogenic/Likely pathogenic rs386833845 GRCh37 Chromosome 8, 145740367: 145740367
8 RECQL4 NM_004260.3(RECQL4): c.3056-2A> C single nucleotide variant Pathogenic rs786200889 GRCh37 Chromosome 8, 145737709: 145737709
9 RECQL4 NM_004260.3(RECQL4): c.1390+1G> T single nucleotide variant Likely pathogenic rs1085307090 GRCh37 Chromosome 8, 145740709: 145740709
10 RECQL4 NM_004260.3(RECQL4): c.3072_3073delAG (p.Val1026Alafs) deletion Pathogenic rs771538008 GRCh38 Chromosome 8, 144512307: 144512308
11 RECQL4 NM_004260.3(RECQL4): c.2379_2380dupAA (p.Ser794Lysfs) duplication Pathogenic rs878854645 GRCh38 Chromosome 8, 144513301: 144513302
12 RECQL4 NM_004260.3(RECQL4): c.1816G> T (p.Glu606Ter) single nucleotide variant Pathogenic rs878854644 GRCh37 Chromosome 8, 145739635: 145739635
13 RECQL4 NM_004260.3(RECQL4): c.3502+1G> C single nucleotide variant Likely pathogenic rs757563486 GRCh38 Chromosome 8, 144511680: 144511680
14 RECQL4 NM_004260.3(RECQL4): c.1131_1131+3delGGTA deletion Pathogenic rs1060501353 GRCh38 Chromosome 8, 144515985: 144515988
15 RECQL4 NM_004260.3(RECQL4): c.2547_2548delGT (p.Phe850Profs) deletion Pathogenic rs778141083 GRCh38 Chromosome 8, 144513054: 144513055
16 RECQL4 NM_004260.3(RECQL4): c.1568_1573delGCCCCTinsCCCCC (p.Ser523Thrfs) indel Pathogenic rs1060501383 GRCh38 Chromosome 8, 144514983: 144514988
17 RECQL4 NM_004260.3(RECQL4): c.1015delC (p.Leu339Cysfs) deletion Pathogenic rs1060501384 GRCh38 Chromosome 8, 144516104: 144516104
18 RECQL4 NM_004260.3(RECQL4): c.805delT (p.Trp269Glyfs) deletion Pathogenic rs1060501370 GRCh38 Chromosome 8, 144516314: 144516314
19 RECQL4 NM_004260.3(RECQL4): c.871delG (p.Ala291Leufs) deletion Pathogenic GRCh38 Chromosome 8, 144516248: 144516248
20 RECQL4 NM_004260.3(RECQL4): c.143_144delTG (p.Leu48Glnfs) deletion Pathogenic GRCh37 Chromosome 8, 145742867: 145742868
21 RECQL4 NM_004260.3(RECQL4): c.1166_1167delGT (p.Cys389Phefs) deletion Pathogenic rs34134064 GRCh37 Chromosome 8, 145741239: 145741240
22 RECQL4 NM_004260.3(RECQL4): c.925C> T (p.Gln309Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 145741578: 145741578
23 RECQL4 NM_004260.3(RECQL4): c.221_222delAG (p.Glu74Alafs) deletion Pathogenic rs773325186 GRCh38 Chromosome 8, 144517182: 144517183
24 RECQL4 NM_004260.3(RECQL4): c.194_200delTCCCCGC (p.Leu65Argfs) deletion Pathogenic GRCh38 Chromosome 8, 144517427: 144517433
25 RECQL4 NM_004260.3(RECQL4): c.2866_2885+19del deletion Likely pathogenic GRCh37 Chromosome 8, 145738006: 145738044

Expression for Baller-Gerold Syndrome

Search GEO for disease gene expression data for Baller-Gerold Syndrome.

Pathways for Baller-Gerold Syndrome

Pathways related to Baller-Gerold Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.64 BRIP1 ERCC1 FANCB RECQL RECQL4 RECQL5
2
Show member pathways
11.63 BRIP1 ERCC1 WRN
3 11.11 BRIP1 ERCC1 FANCB

GO Terms for Baller-Gerold Syndrome

Cellular components related to Baller-Gerold Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.7 BRIP1 CECR2 DDX11 ERCC1 FANCB RECQL
2 nucleoplasm GO:0005654 9.28 BRIP1 DDX11 ERCC1 FANCB RECQL RECQL5

Biological processes related to Baller-Gerold Syndrome according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.85 BRIP1 DDX11 ERCC1 FANCB RECQL5 WRN
2 DNA recombination GO:0006310 9.65 ERCC1 RECQL RECQL4 RECQL5 WRN
3 double-strand break repair GO:0006302 9.63 BRIP1 ERCC1 WRN
4 DNA replication GO:0006260 9.63 BRIP1 DDX11 RECQL4 RECQL5 TWNK WRN
5 double-strand break repair via homologous recombination GO:0000724 9.62 RECQL RECQL4 RECQL5 WRN
6 nucleobase-containing compound metabolic process GO:0006139 9.61 BRIP1 DDX11 WRN
7 telomere maintenance GO:0000723 9.6 RECQL4 WRN
8 base-excision repair GO:0006284 9.59 RECQL4 WRN
9 DNA synthesis involved in DNA repair GO:0000731 9.58 BRIP1 WRN
10 DNA metabolic process GO:0006259 9.58 RECQL5 WRN
11 replication fork processing GO:0031297 9.57 DDX11 WRN
12 strand displacement GO:0000732 9.56 BRIP1 WRN
13 DNA repair GO:0006281 9.56 BRIP1 DDX11 ERCC1 FANCB RECQL RECQL4
14 multicellular organism aging GO:0010259 9.55 ERCC1 WRN
15 t-circle formation GO:0090656 9.54 ERCC1 WRN
16 DNA strand renaturation GO:0000733 9.52 RECQL RECQL4
17 outer ear morphogenesis GO:0042473 9.51 SALL1 TWIST1
18 telomeric D-loop disassembly GO:0061820 9.49 RECQL4 WRN
19 G-quadruplex DNA unwinding GO:0044806 9.48 DDX11 WRN
20 replicative cell aging GO:0001302 9.4 ERCC1 WRN
21 DNA duplex unwinding GO:0032508 9.1 BRIP1 DDX11 RECQL RECQL4 RECQL5 WRN

Molecular functions related to Baller-Gerold Syndrome according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 nucleic acid binding GO:0003676 9.88 BRIP1 DDX11 RECQL RECQL5 SALL1 WRN
2 single-stranded DNA binding GO:0003697 9.73 DDX11 ERCC1 TWNK
3 ATP-dependent DNA helicase activity GO:0004003 9.67 BRIP1 DDX11 RECQL WRN
4 DNA helicase activity GO:0003678 9.62 RECQL RECQL5 TWNK WRN
5 4 iron, 4 sulfur cluster binding GO:0051539 9.57 BRIP1 DDX11
6 ATP-dependent 3-5 DNA helicase activity GO:0043140 9.56 RECQL RECQL4 RECQL5 WRN
7 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 9.55 BRIP1 DDX11
8 annealing helicase activity GO:0036310 9.52 RECQL RECQL4
9 bubble DNA binding GO:0000405 9.51 RECQL4 WRN
10 helicase activity GO:0004386 9.5 BRIP1 DDX11 RECQL RECQL4 RECQL5 TWNK
11 G-quadruplex DNA binding GO:0051880 9.49 DDX11 WRN
12 four-way junction helicase activity GO:0009378 9.46 RECQL RECQL4 RECQL5 WRN
13 telomeric D-loop binding GO:0061821 9.43 RECQL4 WRN
14 ATP-dependent helicase activity GO:0008026 9.1 BRIP1 DDX11 RECQL RECQL4 RECQL5 WRN
15 hydrolase activity GO:0016787 10.08 BRIP1 DDX11 ERCC1 RECQL RECQL5 TWNK
16 DNA binding GO:0003677 10.06 BRIP1 DDX11 ERCC1 RECQL RECQL5 SALL1
17 ATP binding GO:0005524 10.02 BRIP1 DDX11 RECQL RECQL4 RECQL5 TWNK

Sources for Baller-Gerold Syndrome

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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32 ICD10
33 ICD10 via Orphanet
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