CBLL2

Summary

CBLL2 (Cbl proto-oncogene like 2, HGNC:26371) is a protein-coding gene on chromosome Xp22.11, encoding E3 ubiquitin-protein ligase CBLL2 (Q8N7E2). E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins.

This gene encodes a member of the zinc finger domain-containing protein family. This family member contains both a RING-type and a C2H2-type of zinc finger domain, and it may function as an E3 ubiquitin-protein ligase. Protein localization suggests a role in human sperm production and quality control.

Source: NCBI Gene 158506 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 69 total — 7 pathogenic
• MANE Select transcript: NM_152577

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26371
Approved symbol	CBLL2
Name	Cbl proto-oncogene like 2
Location	Xp22.11
Locus type	gene with protein product
Status	Approved
Aliases	FLJ25735, HAKAIL, CT138
Ensembl gene	ENSG00000175809
Ensembl biotype	protein_coding
Entrez	158506

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000323684

RefSeq mRNA: 1 — MANE Select: NM_152577 NM_152577

CCDS: CCDS14205

Canonical transcript exons

ENST00000323684 — 1 exons

Exon	Start	End
ENSE00001284854	22272913	22274461

Expression profiles

Bgee: expression breadth broad, 11 present calls, max score 84.69.

Top tissues by expression

235 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	84.69	gold quality
left testis	UBERON:0004533	72.81	gold quality
right testis	UBERON:0004534	70.84	gold quality
testis	UBERON:0000473	70.38	gold quality
upper leg skin	UBERON:0004262	52.71	silver quality
skin of hip	UBERON:0001554	52.52	silver quality
adult organism	UBERON:0007023	43.96	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
germinal epithelium of ovary	UBERON:0001304	41.99	gold quality
inferior vagus X ganglion	UBERON:0005363	41.75	gold quality
vastus lateralis	UBERON:0001379	41.41	gold quality
quadriceps femoris	UBERON:0001377	41.37	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality
mucosa of paranasal sinus	UBERON:0005030	40.98	gold quality
amniotic fluid	UBERON:0000173	40.69	gold quality
jejunal mucosa	UBERON:0000399	40.59	gold quality
biceps brachii	UBERON:0001507	40.57	gold quality
epithelium of nasopharynx	UBERON:0001951	40.45	gold quality
myocardium	UBERON:0002349	40.45	gold quality
gingival epithelium	UBERON:0001949	40.43	gold quality
esophagus squamous epithelium	UBERON:0006920	40.29	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	40.27	gold quality
jejunum	UBERON:0002115	40.18	gold quality
mammary duct	UBERON:0001765	40.07	gold quality
cartilage tissue	UBERON:0002418	40.06	gold quality
oviduct epithelium	UBERON:0004804	40.03	gold quality
mucosa of sigmoid colon	UBERON:0004993	39.95	gold quality
bronchial epithelial cell	CL:0002328	39.84	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.63

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

15 targeting CBLL2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-370-5P	99.78	66.81	706
HSA-MIR-379-3P	99.69	69.60	1524
HSA-MIR-411-3P	99.69	69.63	1524
HSA-MIR-584-3P	99.35	67.69	1082
HSA-MIR-4635	98.74	67.63	1339
HSA-MIR-11399	98.71	65.69	869
HSA-MIR-4277	98.34	67.17	1323
HSA-MIR-93-3P	98.15	66.65	1309
HSA-MIR-6847-5P	97.93	66.74	1808
HSA-MIR-3928-3P	97.61	66.53	1096

Literature-anchored findings (GeneRIF, showing 1)

• A novel RING finger protein, ZNF645, which is expressed specifically in human testis and sperm and has E3 ubiquitin ligase activity. (PMID:20657603)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
danio_rerio	cbll1	ENSDARG00000015222
drosophila_melanogaster	Hakai	FBGN0032812

Paralogs (1): CBLL1 (ENSG00000105879)

Protein

Protein identifiers

E3 ubiquitin-protein ligase CBLL2 — Q8N7E2 (reviewed: Q8N7E2)

Alternative names: Cbl proto-oncogene-like protein 2, RING-type E3 ubiquitin transferase ZNF645, Zinc finger protein 645, c-Cbl-like protein 2

All UniProt accessions (1): Q8N7E2

UniProt curated annotations — full annotation on UniProt →

Function. E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. May operate on tyrosine-phosphorylated SRC substrates.

Subunit / interactions. Homodimer.

Subcellular location. Cytoplasm.

Tissue specificity. Exclusively expressed in testis and sperm, including spermatocytes, round and elongated spermatids, and Leydig cells.

Domain organisation. The HYB domain forms a phosphotyrosine-binding pocket upon dimerization, and mediates as well the recognition of its flanking acidic amino acids.

Pathway. Protein modification; protein ubiquitination.

RefSeq proteins (1): NP_689790* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001841	Znf_RING	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR013087	Znf_C2H2_type	Domain
IPR017907	Znf_RING_CS	Conserved_site
IPR040380	HAKAI-like_RING-HC	Domain
IPR040383	HAKAI/CBLL2	Family
IPR041042	Znf_Hakai	Domain

Pfam: PF18408

UniProt features (12 total): region of interest 3, zinc finger region 2, sequence conflict 2, compositionally biased region 2, sequence variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N7E2-F1	55.14	0.18

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-1280218	Adaptive Immune System
R-HSA-168256	Immune System
R-HSA-983169	Class I MHC mediated antigen processing & presentation

MSigDB gene sets: 20 (showing top): REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOCC_TRANSFERASE_COMPLEX, GOCC_METHYLTRANSFERASE_COMPLEX, GOMF_ACYLTRANSFERASE_ACTIVITY, GOMF_AMINOACYLTRANSFERASE_ACTIVITY, GOMF_UBIQUITIN_LIKE_PROTEIN_LIGASE_ACTIVITY, chrXp22, YAP1_DN, MIR448, MIR584_3P, MIR3928_3P, GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION

GO Biological Process (2): protein ubiquitination (GO:0016567), regulation of cell adhesion (GO:0030155)

GO Molecular Function (5): zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), RNA N6-methyladenosine methyltransferase complex (GO:0036396)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Class I MHC mediated antigen processing & presentation	1
Immune System	1
Adaptive Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein modification by small protein conjugation	1
cell adhesion	1
regulation of cellular process	1
transition metal ion binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
binding	1
catalytic activity	1
cation binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1
methyltransferase complex	1

Protein interactions and networks

STRING

434 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CBLL2	UBE3D	Q7Z6J8	589
CBLL2	SMCO3	A2RU48	571
CBLL2	OR1J4	Q8NGS1	506
CBLL2	TRIM63	Q969Q1	471
CBLL2	SATL1	Q86VE3	447
CBLL2	OR2B11	Q5JQS5	420
CBLL2	OR5I1	Q13606	419
CBLL2	RNF151	Q2KHN1	417
CBLL2	OR10AD1	Q8NGE0	398
CBLL2	MROH6	A6NGR9	396
CBLL2	CBL	P22681	394
CBLL2	VN1R1	Q9GZP7	394
CBLL2	ARIH2	O95376	394
CBLL2	SEC22C	Q9BRL7	391
CBLL2	CBLC	Q9ULV8	372

IntAct

25 interactions, top by confidence:

A	B	Type	Score
KRTAP12-2	CBLL2	psi-mi:“MI:0915”(physical association)	0.560
CYSRT1	CBLL2	psi-mi:“MI:0915”(physical association)	0.560
MAPK9	CBLL2	psi-mi:“MI:0915”(physical association)	0.560
CBLL2	PIH1D2	psi-mi:“MI:0915”(physical association)	0.560
CBLL2	PRR13	psi-mi:“MI:0915”(physical association)	0.560
LONRF1	CBLL2	psi-mi:“MI:0915”(physical association)	0.560
CBLL2	MDFI	psi-mi:“MI:0915”(physical association)	0.560
CBLL2	SRSF10	psi-mi:“MI:0914”(association)	0.350
CBLL2	COL1A1	psi-mi:“MI:0914”(association)	0.350
CBLL2	KRTAP12-2	psi-mi:“MI:0915”(physical association)	0.000
CBLL2	MDFI	psi-mi:“MI:0915”(physical association)	0.000
CBLL2	CYSRT1	psi-mi:“MI:0915”(physical association)	0.000
MAPK9	CBLL2	psi-mi:“MI:0915”(physical association)	0.000
PRR13	CBLL2	psi-mi:“MI:0915”(physical association)	0.000
LONRF1	CBLL2	psi-mi:“MI:0915”(physical association)	0.000
CBLL2	MAPK9	psi-mi:“MI:0915”(physical association)	0.000
CBLL2	PIH1D2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (31): KIAA1429 (Affinity Capture-MS), PPP2R2D (Affinity Capture-MS), WTAP (Affinity Capture-MS), ZC3H13 (Affinity Capture-MS), SERTAD4 (Affinity Capture-MS), SRSF10 (Affinity Capture-MS), KIAA1429 (Affinity Capture-MS), ZC3H13 (Affinity Capture-MS), SERTAD4 (Affinity Capture-MS), WTAP (Affinity Capture-MS), PPP2R2D (Affinity Capture-MS), SRSF10 (Affinity Capture-MS), ZNF645 (Two-hybrid), ZNF645 (Two-hybrid), ZNF645 (Two-hybrid)

ESM2 similar proteins: A0A1B0GVQ3, A0A1W2PPK0, A0A1W2PPM1, A2A9I7, A6NCI8, A6QQS3, A7XCE8, E9PI22, E9PXT9, O15016, O91083, P09414, P0DMB1, P17923, P18804, P20879, P35965, P49750, Q0P670, Q12857, Q1RMX6, Q32LN6, Q32MG2, Q3B8N5, Q3T016, Q3V0A6, Q4JK59, Q5BI31, Q5T035, Q5ZKH6, Q642A3, Q6AXV6, Q6IMN6, Q6P1W5, Q6PEX7, Q6X4T0, Q80YD3, Q86UF4, Q8BII1, Q8C5V0

Diamond homologs: M9PBE2, Q4R361, Q4R7I8, Q4V7X9, Q5ZHZ4, Q75N03, Q8N7E2, Q9JIY2, Q9LFC0

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	CBLL2	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

69 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	7
Likely pathogenic	0
Uncertain significance	49
Likely benign	9
Benign	3

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
1013602	NC_000023.11:g.22243338_22690207del	Pathogenic
438562	NC_000023.10:g.22256748_22370988del114241	Pathogenic
830979	NC_000023.11:g.(?22168312)(22274269_?)del	Pathogenic
831244	NC_000023.10:g.(?21990015)(22292386_?)del	Pathogenic
831597	NC_000023.10:g.(?22094506)(22292386_?)del	Pathogenic
832361	NC_000023.11:g.(?22245333)(22274269_?)del	Pathogenic
989452	NC_000023.11:g.22213388_22345581del	Pathogenic

SpliceAI

110 predictions. Top by Δscore:

Variant	Effect	Δscore
X:22273042:G:T	donor_gain	0.7800
X:22274091:A:AG	acceptor_gain	0.6700
X:22274092:G:GG	acceptor_gain	0.6700
X:22273042:G:GT	donor_gain	0.6300
X:22273334:A:AG	acceptor_gain	0.5400
X:22273335:G:GG	acceptor_gain	0.5400
X:22274124:A:T	acceptor_gain	0.5300
X:22273074:G:GT	donor_gain	0.5200
X:22273335:GTATT:G	acceptor_gain	0.5000
X:22274087:C:G	acceptor_gain	0.4800
X:22274092:GTT:G	acceptor_gain	0.4800
X:22274125:G:T	acceptor_gain	0.4700
X:22274092:GTTC:G	acceptor_gain	0.4300
X:22273075:A:T	donor_gain	0.4100
X:22274221:ACAT:A	acceptor_gain	0.4000
X:22274092:GTTCA:G	acceptor_gain	0.3800
X:22274123:CAG:C	acceptor_gain	0.3700
X:22273979:AAG:A	donor_gain	0.3600
X:22273027:A:G	donor_gain	0.3500
X:22273132:TGAA:T	donor_gain	0.3500
X:22274087:CCTCA:C	acceptor_loss	0.3500
X:22274089:TCA:T	acceptor_loss	0.3500
X:22274090:CA:C	acceptor_loss	0.3500
X:22274091:A:AT	acceptor_loss	0.3500
X:22274092:G:GC	acceptor_loss	0.3500
X:22273721:CAGAA:C	acceptor_gain	0.3400
X:22274086:A:AG	acceptor_gain	0.3400
X:22274091:A:T	acceptor_gain	0.3400
X:22274082:T:G	acceptor_loss	0.3200
X:22274053:A:G	donor_gain	0.3100

AlphaMissense

2790 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:22273325:T:C	F112L	0.983
X:22273327:C:A	F112L	0.983
X:22273327:C:G	F112L	0.983
X:22273220:T:C	F77L	0.978
X:22273222:T:A	F77L	0.978
X:22273222:T:G	F77L	0.978
X:22273197:G:C	R69P	0.966
X:22273160:T:A	C57S	0.950
X:22273161:G:C	C57S	0.950
X:22273225:C:G	C78W	0.950
X:22273216:T:A	H75Q	0.948
X:22273216:T:G	H75Q	0.948
X:22273161:G:A	C57Y	0.946
X:22273380:T:C	L130S	0.943
X:22273223:T:C	C78R	0.942
X:22273268:T:C	C93R	0.942
X:22273160:T:C	C57R	0.939
X:22273169:T:A	C60S	0.938
X:22273170:G:C	C60S	0.938
X:22273162:T:G	C57W	0.936
X:22273390:T:A	H133Q	0.935
X:22273390:T:G	H133Q	0.935
X:22273193:G:T	G68W	0.932
X:22273194:G:A	G68E	0.932
X:22273331:T:A	C114S	0.932
X:22273332:G:C	C114S	0.932
X:22273224:G:A	C78Y	0.931
X:22273131:G:A	G47D	0.930
X:22273349:T:A	C120S	0.926
X:22273350:G:C	C120S	0.926

dbSNP variants (sampled 300 via entrez): RS1002283667 (X:22274957 C>A,T), RS1002708067 (X:22274530 A>T), RS1003159529 (X:22271485 G>A), RS1003619187 (X:22272203 C>T), RS1003703661 (X:22273356 G>A), RS1004248337 (X:22274313 A>G), RS1004681876 (X:22272567 G>C), RS1004819264 (X:22272249 T>C), RS1005250298 (X:22272334 T>C,G), RS1006034157 (X:22274494 G>C), RS1007141629 (X:22271951 T>C,G), RS1007331892 (X:22272250 T>C), RS1008319218 (X:22274914 C>G,T), RS1008613794 (X:22272722 C>G,T), RS1010625281 (X:22273733 G>C,T)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:307800

GenCC curated gene-disease

Mondo (1): X-linked dominant hypophosphatemic rickets (MONDO:0010619)

Orphanet (1): X-linked hypophosphatemia (Orphanet:89936)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	affects methylation	1
Permethrin	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_XW72	HEK293 eGFP-ZNF645	Transformed cell line	Female

Clinical trials (associated diseases)

45 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT03820518	PHASE4	UNKNOWN	Using Different Doses of Active Vitamin D Combined With Neutral Phosphate in Children With X-linked Hypophosphatemia
NCT04146935	PHASE4	COMPLETED	Examining the Effect of Burosumab on Muscle Function
NCT04419363	PHASE4	UNKNOWN	Burosumab in Children and Adolescents With X-linked Hypophosphatemia
NCT04842019	PHASE4	COMPLETED	Study to Assess the Safety, Pharmacokinetics and Efficacy of KRN23 in Adult Chinese Patients With XLH
NCT04842032	PHASE4	COMPLETED	Study to Assess the Safety, Pharmacokinetics and Efficacy of KRN23 in Pediatric Chinese Patients With XLH
NCT02526160	PHASE3	COMPLETED	Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH)
NCT02537431	PHASE3	COMPLETED	Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH)
NCT02915705	PHASE3	COMPLETED	Efficacy and Safety of Burosumab Versus Oral Phosphate and Active Vitamin D Treatment in Pediatric Patients With XLH
NCT03233126	PHASE3	COMPLETED	A Study of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia
NCT03920072	PHASE3	COMPLETED	Study of the Anti-FGF23 Antibody, Burosumab, in Adults With XLH
NCT04308096	PHASE3	COMPLETED	A Study of KRN23 in Adult and Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia
NCT04695860	PHASE3	COMPLETED	Anti-FGF23 (Burosumab) in Adult Patients With XLH
NCT04872907	PHASE3	UNKNOWN	Prevention of Spontaneous Dental Abscesses in Children With X-linked Hypophosphatemia : a RCT
NCT02163577	PHASE2	COMPLETED	Study of KRN23 (Burosumab), a Recombinant Fully Human Monoclonal Antibody Against Fibroblast Growth Factor 23 (FGF23), in Pediatric Subjects With X-linked Hypophosphatemia (XLH)
NCT02312687	PHASE2	COMPLETED	Long-Term Extension Study of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH)
NCT02750618	PHASE2	COMPLETED	Study of the Safety, Pharmacodynamics (PD) and Efficacy of KRN23 in Children From 1 to 4 Years Old With X-linked Hypophosphatemia (XLH)
NCT00195936	PHASE1	COMPLETED	Effect of Cinacalcet on Parathyroid Hormone Secretion in Children and Adolescents With Hypophosphatemic Rickets
NCT00830674	PHASE1	COMPLETED	A Study of KRN23 in X-linked Hypophosphatemia
NCT02181764	PHASE1	COMPLETED	A Study of KRN23 in Subjects With X-linked Hypophosphatemic Rickets/Osteomalacia
NCT01340482	PHASE1/PHASE2	COMPLETED	A Repeated Study of KRN23 in Adults With X-Linked Hypophosphatemia
NCT01571596	PHASE1/PHASE2	COMPLETED	An Extension Study of KRN23 in Adults With X-Linked Hypophosphatemia
NCT02720770	PHASE1/PHASE2	COMPLETED	Growth Hormone Treatment in Children With Hypophosphatemic Rickets
NCT04188964	PHASE1/PHASE2	COMPLETED	Study to Assess the Safety, Tolerability, Pharmacokinetics and Efficacy of Burosumab in Patients Less Than 1 Year of Age
NCT06525636	PHASE1/PHASE2	RECRUITING	A First-in-human Study of KK8123 in Adults With X-linked Hypophosphatemia
NCT03748966	EARLY_PHASE1	COMPLETED	Calcitriol Monotherapy for X-Linked Hypophosphatemia
NCT03771105	EARLY_PHASE1	RECRUITING	The Impact of Phosphate Metabolism on Healthy Aging
NCT01652573	Not specified	COMPLETED	Calcitonin for Treating X-linked Hypophosphatemia
NCT03193476	Not specified	RECRUITING	Registry for Patients With X-Linked Hypophosphatemia
NCT03489993	Not specified	COMPLETED	FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP)
NCT03596554	Not specified	COMPLETED	X-linked Hypophosphatemia and FGF21
NCT03651505	Not specified	ACTIVE_NOT_RECRUITING	X-linked Hypophosphatemia Disease Monitoring Program
NCT03745521	Not specified	ACTIVE_NOT_RECRUITING	Study of Longitudinal Observation for Patient With X-linked Hypophosphatemic Rickets/Osteomalacia in Collaboration With Asian Partners
NCT03775187	Not specified	AVAILABLE	Expanded Access to Burosumab
NCT03879915	Not specified	UNKNOWN	Dental Implants in Patients With X-linked Hypophosphatemia
NCT04049877	Not specified	COMPLETED	Retrospective and Prospective Disease Progression and Quality of Life in XLH
NCT04273490	Not specified	COMPLETED	Characterising Pain, QoL, Body Composition, Arterial Stiffness, Muscles and Bones in Adult Persons With XLH and Healthy Controls
NCT04946409	Not specified	ACTIVE_NOT_RECRUITING	Burden of Disease and Functional Impairment in XLH
NCT05181839	Not specified	COMPLETED	A Study to Describe the Lived Experience of XLH for Adolescents at End of Skeletal Growth
NCT05312086	Not specified	UNKNOWN	Muscle Abnormalities in Children With XLH
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening