KLHDC7B

Summary

KLHDC7B (kelch domain containing 7B, HGNC:25145) is a protein-coding gene on chromosome 22q13.33, encoding Kelch domain-containing protein 7B (Q96G42).

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 124 total — 2 pathogenic
• MANE Select transcript: NM_138433

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25145
Approved symbol	KLHDC7B
Name	kelch domain containing 7B
Location	22q13.33
Locus type	gene with protein product
Status	Approved
Aliases	MGC16635
Ensembl gene	ENSG00000130487
Ensembl biotype	protein_coding
OMIM	620521
Entrez	113730

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000434237, ENST00000648057

RefSeq mRNA: 1 — MANE Select: NM_138433 NM_138433

CCDS: CCDS14097

Canonical transcript exons

ENST00000648057 — 1 exons

Exon	Start	End
ENSE00003840606	50545899	50551023

Expression profiles

Bgee: expression breadth ubiquitous, 128 present calls, max score 81.94.

FANTOM5 (CAGE): breadth broad, TPM avg 1.7847 / max 165.7375, expressed in 439 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
193025	0.9076	213
193028	0.4399	123
193023	0.1957	79
193026	0.1117	39
193024	0.0736	35
193027	0.0563	25

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
palpebral conjunctiva	UBERON:0001812	81.94	gold quality
granulocyte	CL:0000094	78.62	gold quality
mucosa of paranasal sinus	UBERON:0005030	78.20	silver quality
epithelium of nasopharynx	UBERON:0001951	78.04	gold quality
pancreatic ductal cell	CL:0002079	75.79	silver quality
kidney epithelium	UBERON:0004819	75.36	gold quality
nasal cavity epithelium	UBERON:0005384	73.92	gold quality
leukocyte	CL:0000738	72.51	gold quality
monocyte	CL:0000576	71.98	gold quality
cardiac muscle of right atrium	UBERON:0003379	70.80	gold quality
left ventricle myocardium	UBERON:0006566	70.45	gold quality
ileal mucosa	UBERON:0000331	70.12	silver quality
superficial temporal artery	UBERON:0001614	70.12	gold quality
thymus	UBERON:0002370	69.03	gold quality
blood	UBERON:0000178	68.63	gold quality
vermiform appendix	UBERON:0001154	66.38	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	66.25	gold quality
nasal cavity mucosa	UBERON:0001826	65.93	gold quality
spleen	UBERON:0002106	65.61	gold quality
bone marrow cell	CL:0002092	65.59	silver quality
lymph node	UBERON:0000029	64.89	gold quality
tibialis anterior	UBERON:0001385	64.06	silver quality
caecum	UBERON:0001153	61.83	gold quality
bone marrow	UBERON:0002371	60.50	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	59.59	gold quality
myocardium	UBERON:0002349	58.99	gold quality
lower lobe of lung	UBERON:0008949	58.98	silver quality
amniotic fluid	UBERON:0000173	58.37	silver quality
esophagus squamous epithelium	UBERON:0006920	58.24	silver quality
trachea	UBERON:0003126	56.98	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.87

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

21 targeting KLHDC7B, 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-9902	99.89	69.15	2250
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-4688	99.48	64.68	828
HSA-MIR-6743-5P	99.48	63.60	721
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-7113-3P	98.75	65.71	1120
HSA-MIR-198	98.70	67.32	920
HSA-MIR-423-5P	98.69	67.48	1522
HSA-MIR-3184-5P	98.56	67.13	1491
HSA-MIR-3179	98.22	65.90	1445
HSA-MIR-6893-3P	97.79	64.91	1238
HSA-MIR-3085-5P	97.72	65.43	544
HSA-MIR-376C-3P	97.63	68.88	1263
HSA-MIR-4308	97.56	67.13	1385
HSA-MIR-1225-3P	97.29	64.60	876
HSA-MIR-370-3P	97.09	64.92	1221
HSA-MIR-3907	96.76	65.04	662
HSA-MIR-7160-3P	96.40	64.15	462
HSA-MIR-381-5P	91.91	65.03	65

Literature-anchored findings (GeneRIF, showing 3)

• Hs.137007 gene is a novel gene specifically expressed in the breast that has a role in epigenetic regulation of breast cancer [Hs.137007] (PMID:20372783)
• HPV E7 affects the function of cervical cancer cells via the TAL1/lncEBIC/KLHDC7B axis. (PMID:33760214)
• KLHDC7B as a novel diagnostic biomarker in urine exosomal mRNA promotes bladder urothelial carcinoma cell proliferation and migration, inhibits apoptosis. (PMID:37888201)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Klhdc7b	ENSMUSG00000091680
rattus_norvegicus	Klhdc7b	ENSRNOG00000032419

Paralogs (54): KLHL13 (ENSG00000003096), KLHL20 (ENSG00000076321), KEAP1 (ENSG00000079999), KLHL42 (ENSG00000087448), KLHL22 (ENSG00000099910), KLHL4 (ENSG00000102271), KLHL2 (ENSG00000109466), KLHL5 (ENSG00000109790), BACH2 (ENSG00000112182), KLHL18 (ENSG00000114648), KLHL24 (ENSG00000114796), IVNS1ABP (ENSG00000116679), KLHL12 (ENSG00000117153), KLHL29 (ENSG00000119771), KBTBD7 (ENSG00000120696), KLHL7 (ENSG00000122550), KLHL31 (ENSG00000124743), KLHL36 (ENSG00000135686), KLHL8 (ENSG00000145332), KLHL3 (ENSG00000146021), KLHL35 (ENSG00000149243), KLHL1 (ENSG00000150361), BACH1 (ENSG00000156273), KLHL40 (ENSG00000157119), KLHL10 (ENSG00000161594), KLHL21 (ENSG00000162413), KLHDC8A (ENSG00000162873), KBTBD8 (ENSG00000163376), KBTBD6 (ENSG00000165572), KLHL26 (ENSG00000167487), KLHL30 (ENSG00000168427), KBTBD2 (ENSG00000170852), KLHL6 (ENSG00000172578), KLHL15 (ENSG00000174010), KLHL38 (ENSG00000175946), KBTBD11 (ENSG00000176595), KLHDC7A (ENSG00000179023), KLHL28 (ENSG00000179454), KBTBD3 (ENSG00000182359), KLHL33 (ENSG00000185271)

Protein

Protein identifiers

Kelch domain-containing protein 7B — Q96G42 (reviewed: Q96G42)

All UniProt accessions (1): A0A3B3ISF6

UniProt curated annotations — full annotation on UniProt →

RefSeq proteins (1): NP_612442* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006652	Kelch_1	Repeat
IPR015915	Kelch-typ_b-propeller	Homologous_superfamily
IPR052310	Kelch/BTB_domain_protein	Family

Pfam: PF01344

UniProt features (11 total): repeat 5, compositionally biased region 4, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96G42-F1	69.93	0.42

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 31 (showing top): chr22q13, WANG_SMARCE1_TARGETS_UP, RICKMAN_HEAD_AND_NECK_CANCER_F, MIR376C_3P, MIR3179, GSE13485_CTRL_VS_DAY3_YF17D_VACCINE_PBMC_DN, GSE13485_CTRL_VS_DAY7_YF17D_VACCINE_PBMC_DN, GSE13485_DAY1_VS_DAY7_YF17D_VACCINE_PBMC_DN, GSE13485_DAY3_VS_DAY7_YF17D_VACCINE_PBMC_DN, GSE13485_PRE_VS_POST_YF17D_VACCINATION_PBMC_DN, BLANCO_MELO_COVID19_SARS_COV_2_INFECTION_CALU3_CELLS_UP, BLANCO_MELO_BRONCHIAL_EPITHELIAL_CELLS_INFLUENZA_A_DEL_NS1_INFECTION_UP, NAKAYAMA_FRA2_TARGETS, GAO_LARGE_INTESTINE_24W_C11_PANETH_LIKE_CELL, ZAK_PBMC_MRKAD5_HIV_1_GAG_POL_NEF_AGE_20_50YO_1DY_UP

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

386 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KLHDC7B	CLRN2	A0PK11	490
KLHDC7B	OR4F21	O95013	417
KLHDC7B	ZNF487	B1APH4	400
KLHDC7B	GARIN5A	Q6IPT2	393
KLHDC7B	FSCN2	O14926	359
KLHDC7B	TRABD	Q9H4I3	339
KLHDC7B	CCDC68	Q9H2F9	334
KLHDC7B	SYNJ2	O15056	326
KLHDC7B	CIB4	A0PJX0	321
KLHDC7B	EVA1B	Q9NVM1	316
KLHDC7B	RNF208	Q9H0X6	316
KLHDC7B	TRIOBP	Q9H2D6	311
KLHDC7B	SHCBP1L	Q9BZQ2	301
KLHDC7B	BAIAP2L2	Q6UXY1	300
KLHDC7B	DENND6B	Q8NEG7	300

IntAct

73 interactions, top by confidence:

A	B	Type	Score
KLHDC7B	MAPRE3	psi-mi:“MI:0915”(physical association)	0.560
KLHDC7B	HNRNPUL1	psi-mi:“MI:0915”(physical association)	0.560
FNDC3B	KLHDC7B	psi-mi:“MI:0915”(physical association)	0.560
TBX6	KLHDC7B	psi-mi:“MI:0915”(physical association)	0.560
KLHDC7B	A1CF	psi-mi:“MI:0915”(physical association)	0.560
SMUG1	KLHDC7B	psi-mi:“MI:0915”(physical association)	0.560
BHLHE40	KLHDC7B	psi-mi:“MI:0915”(physical association)	0.560
KLHDC7B	PATZ1	psi-mi:“MI:0915”(physical association)	0.560
ESRP1	KLHDC7B	psi-mi:“MI:0915”(physical association)	0.560
PHC2	KLHDC7B	psi-mi:“MI:0915”(physical association)	0.560
RBPMS	KLHDC7B	psi-mi:“MI:0915”(physical association)	0.560
NFYC	KLHDC7B	psi-mi:“MI:0915”(physical association)	0.560
KLHDC7B	SPMIP9	psi-mi:“MI:0915”(physical association)	0.560
KLHDC7B	WWOX	psi-mi:“MI:0915”(physical association)	0.560
TP53BP1	KLHDC7B	psi-mi:“MI:0915”(physical association)	0.560
RBPMS2	KLHDC7B	psi-mi:“MI:0915”(physical association)	0.560
KLHDC7B	RHOXF2	psi-mi:“MI:0915”(physical association)	0.560
KLHDC7B	ZC3H10	psi-mi:“MI:0915”(physical association)	0.560
QRICH1	KLHDC7B	psi-mi:“MI:0915”(physical association)	0.560
DTX2	KLHDC7B	psi-mi:“MI:0915”(physical association)	0.560
LIMS4	KLHDC7B	psi-mi:“MI:0915”(physical association)	0.560
POGZ	KLHDC7B	psi-mi:“MI:0915”(physical association)	0.560
TLE5	KLHDC7B	psi-mi:“MI:0915”(physical association)	0.560
NUDCD3	KLHDC7B	psi-mi:“MI:0915”(physical association)	0.400
CFTR	KLHDC7B	psi-mi:“MI:0915”(physical association)	0.370
EPHB6	PGRMC1	psi-mi:“MI:0914”(association)	0.350
MAPRE3	KLHDC7B	psi-mi:“MI:0915”(physical association)	0.000
HNRNPUL1	KLHDC7B	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (27): KLHDC7B (Two-hybrid), KLHDC7B (Two-hybrid), KLHDC7B (Two-hybrid), KLHDC7B (Two-hybrid), KLHDC7B (Two-hybrid), KLHDC7B (Two-hybrid), KLHDC7B (Two-hybrid), KLHDC7B (Two-hybrid), KLHDC7B (Two-hybrid), KLHDC7B (Two-hybrid), RHOXF2 (Two-hybrid), BHLHE40 (Two-hybrid), PHC2 (Two-hybrid), ZC3H10 (Two-hybrid), POGZ (Two-hybrid)

ESM2 similar proteins: A1L3C1, A2AWP8, A2RRU4, A6QM06, A6QNS9, E1BBQ2, F1LQY6, G3V9M2, O43189, O94827, P29372, P29590, P41155, P97260, Q01113, Q02833, Q04841, Q0P5I0, Q12770, Q13387, Q13505, Q29RM4, Q32L49, Q3V1H9, Q5MNU5, Q5R5M3, Q66T02, Q69Z89, Q6GQT6, Q6IPT2, Q6RFZ7, Q6ZN54, Q70EL4, Q7Z6G3, Q8BQB4, Q8C4U2, Q8N1F8, Q8N554, Q8WWW0, Q8WXF8

Diamond homologs: A0JN76, A1L4W5, A2AAX3, B1WBS3, B2RXF5, B7U179, D3YUB6, D3ZA50, O14867, O15062, O43167, P0DMR5, P0DMR6, P41182, P41183, P97303, Q0IJ29, Q13105, Q1L8W0, Q24174, Q3B725, Q3B7N9, Q52KB5, Q5EXX3, Q5R4Q7, Q5R4S6, Q5R5N5, Q5RGB8, Q5ZJU2, Q5ZM39, Q60821, Q6DDV0, Q6DEL7, Q6NRM8, Q6P882, Q6P8B3, Q6YCH1, Q6YCH2, Q6ZSB9, Q717B2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	106
Likely benign	16
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
154200	GRCh38/hg38 22q13.33(chr22:50485457-50759410)x1	Pathogenic
976871	NC_000022.11:g.48500337_50739785del	Pathogenic

SpliceAI

38 predictions. Top by Δscore:

Variant	Effect	Δscore
22:50550751:A:AG	acceptor_gain	0.7700
22:50550752:A:G	acceptor_gain	0.7600
22:50548599:G:GT	donor_gain	0.5800
22:50550755:T:G	acceptor_gain	0.5600
22:50550750:T:G	acceptor_gain	0.5400
22:50550751:AAAAT:A	acceptor_gain	0.5200
22:50548837:TG:T	acceptor_gain	0.4900
22:50548838:GG:G	acceptor_gain	0.4900
22:50549992:G:GT	donor_gain	0.4800
22:50548099:A:T	donor_gain	0.4400
22:50550757:T:TA	acceptor_gain	0.4300
22:50548197:C:T	donor_gain	0.3900
22:50548213:G:GT	donor_gain	0.3300
22:50549705:A:AG	donor_gain	0.3100
22:50549706:G:GG	donor_gain	0.3100
22:50548604:C:A	donor_gain	0.3000
22:50550762:A:AG	acceptor_gain	0.3000
22:50550763:G:GG	acceptor_gain	0.3000
22:50549727:G:T	donor_gain	0.2900
22:50550753:AATGT:A	acceptor_gain	0.2900
22:50550753:A:AG	acceptor_gain	0.2600
22:50548408:GCC:G	donor_gain	0.2500
22:50548834:G:GA	acceptor_gain	0.2500
22:50550754:ATGT:A	acceptor_gain	0.2500
22:50548134:C:T	donor_gain	0.2400
22:50550758:G:A	acceptor_gain	0.2400
22:50548574:C:A	donor_gain	0.2300
22:50549726:G:GT	donor_gain	0.2200
22:50549780:C:CT	acceptor_gain	0.2200
22:50550749:A:AG	acceptor_gain	0.2200

AlphaMissense

7745 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:50549448:T:A	W428R	0.997
22:50549448:T:C	W428R	0.997
22:50549527:T:A	V454D	0.997
22:50549450:G:C	W428C	0.996
22:50549450:G:T	W428C	0.996
22:50549481:T:C	F439L	0.995
22:50549483:C:A	F439L	0.995
22:50549483:C:G	F439L	0.995
22:50549583:T:A	W473R	0.995
22:50549583:T:C	W473R	0.995
22:50549585:G:C	W473C	0.995
22:50549585:G:T	W473C	0.995
22:50549319:T:A	W385R	0.994
22:50549319:T:C	W385R	0.994
22:50549697:T:G	Y511D	0.994
22:50549718:T:A	W518R	0.994
22:50549718:T:C	W518R	0.994
22:50549236:T:C	F357S	0.992
22:50549562:T:G	Y466D	0.992
22:50549659:T:C	F498S	0.992
22:50549392:C:A	A409D	0.991
22:50549658:T:C	F498L	0.991
22:50549660:C:A	F498L	0.991
22:50549660:C:G	F498L	0.991
22:50549160:T:A	W332R	0.989
22:50549160:T:C	W332R	0.989
22:50549401:G:T	G412V	0.989
22:50549652:T:G	Y496D	0.989
22:50549720:G:C	W518C	0.989
22:50549720:G:T	W518C	0.989

dbSNP variants (sampled 300 via entrez): RS1000775439 (22:50550655 G>A), RS1000841692 (22:50547283 G>A,T), RS1000920445 (22:50547504 T>C), RS1000989632 (22:50545082 C>T), RS1001340166 (22:50544786 C>A,T), RS1001692560 (22:50548084 G>A,T), RS1001723562 (22:50548443 G>A,C), RS1001724708 (22:50546430 G>A,C), RS1002026267 (22:50546905 C>G,T), RS1002496754 (22:50550890 C>A,T), RS1002843338 (22:50548356 C>G,T), RS1003246485 (22:50549207 C>A,T), RS1003367112 (22:50547747 C>T), RS1003696261 (22:50545713 C>G,T), RS1004132385 (22:50545985 AGCTGGTGGG>A)

Disease associations

OMIM: gene MIM:620521 | disease phenotypes: MIM:606232

GenCC curated gene-disease

Mondo (1): Phelan-McDermid syndrome (MONDO:0011652)

Orphanet (1): Phelan-McDermid syndrome (Orphanet:48652)

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST000587_8	Mean corpuscular hemoglobin	4.000000e-08
GCST005996_9	Red blood cell count	4.000000e-10
GCST012020_516	Serum metabolite levels	4.000000e-23
GCST012442_12	Age-related hearing impairment	2.000000e-29
GCST012442_26	Age-related hearing impairment	3.000000e-10
GCST90002393_596	Monocyte count	3.000000e-09

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004509	hemoglobin measurement
EFO:0004527	mean corpuscular hemoglobin
EFO:0004305	erythrocyte count
EFO:0005091	monocyte count

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C536801	Telomeric 22q13 Monosomy Syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

39 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, decreases expression	4
bisphenol A	affects expression, increases expression	2
Cyclosporine	increases expression	2
GSK-J4	decreases expression	1
sotorasib	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
hydroxyhydroquinone	decreases reaction, increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
butyraldehyde	increases expression	1
perfluorooctanoic acid	increases expression	1
ferrous chloride	decreases expression	1
4-aminobenzhydrazide	increases expression, decreases reaction	1
di-n-butylphosphoric acid	affects expression	1
abrine	increases expression	1
NSC 689534	affects binding, increases expression	1
trametinib	affects cotreatment, increases expression	1
NVP-BKM120	affects cotreatment, increases expression	1
Bortezomib	increases expression	1
Resveratrol	decreases expression, affects cotreatment	1
Sunitinib	increases expression	1
Microplastics	affects expression, increases abundance	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Calcitriol	increases expression	1
Cisplatin	decreases expression	1
Copper	affects binding, increases expression	1
Dexamethasone	decreases expression	1
Formaldehyde	decreases expression	1
Iron	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT07281079	PHASE3	RECRUITING	A Study of NNZ-2591 in Pediatric Participants With Phelan-McDermid Syndrome
NCT07593391	PHASE3	RECRUITING	An Open-label Study of NNZ-2591 in Pediatric Participants With Phelan-McDermid Syndrome
NCT01525901	PHASE2	COMPLETED	Clinical Trial in 22q13 Deletion Syndrome(Phelan-McDermid Syndrome)
NCT02710084	PHASE2	COMPLETED	Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome
NCT03493607	PHASE2	COMPLETED	AMO-01 to Treat Adolescents and Adults With Phelan-McDermid Syndrome (PMS) and Co-morbid Epilepsy
NCT04003207	PHASE2	COMPLETED	Growth Hormone Treatment in Children With Phelan McDermid Syndrome
NCT05025241	PHASE2	COMPLETED	An Open-Label Study of Oral NNZ-2591 in Phelan-McDermid Syndrome (PMS-001)
NCT05187377	PHASE2	COMPLETED	A Controlled Trial of Growth Hormone in Phelan-McDermid Syndrome and Idiopathic Autism
NCT05105685	PHASE1/PHASE2	COMPLETED	Effectiveness of Recombinant Human Growth Hormone Therapy for Children With PMS
NCT06662188	PHASE1/PHASE2	RECRUITING	JAG201 Gene Therapy Study in Children & Adults With SHANK3 Haploinsufficiency
NCT02000167	Not specified	COMPLETED	Mitochondrial Dysfunction in Phelan-McDermid Syndrome
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT03426059	Not specified	COMPLETED	Mapping the Phenotype in Adults With Phelan-McDermid Syndrome
NCT03836300	Not specified	ENROLLING_BY_INVITATION	Parent and Infant Inter(X)Action Intervention (PIXI)
NCT04312152	Not specified	UNKNOWN	Q10 Ubiquinol in Autism Spectrum Disorder and in Phelan-McDermid Syndrome.
NCT07014020	Not specified	RECRUITING	RB001 Gene Therapy Study in Children With SHANK3-related Phelan McDermid Syndrome (PMS)