Amelocerebrohypohidrotic syndrome

Summary

Amelocerebrohypohidrotic syndrome (MONDO:0009185) is a disease caused by ROGDI (GenCC Definitive), with 3 cohort genes and 2 clinical trials.

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Causal gene: ROGDI (GenCC Definitive)
• Cohort genes: 3
• ClinVar variants: 602
• Phenotypes (HPO): 14
• Clinical trials: 2

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

14 HPO clinical features (Orphanet curated; top 14 by frequency):

HPO ID	Term	Frequency
HP:0001250	Seizure	Very frequent (80-99%)
HP:0001257	Spasticity	Very frequent (80-99%)
HP:0001268	Mental deterioration	Very frequent (80-99%)
HP:0002353	EEG abnormality	Very frequent (80-99%)
HP:0002376	Developmental regression	Very frequent (80-99%)
HP:0006286	Yellow-brown discoloration of the teeth	Very frequent (80-99%)
HP:0011073	Abnormality of dental color	Very frequent (80-99%)
HP:0000682	Abnormality of dental enamel	Very frequent (80-99%)
HP:0000705	Amelogenesis imperfecta	Very frequent (80-99%)
HP:0000726	Dementia	Very frequent (80-99%)
HP:0010864	Intellectual disability, severe	Very frequent (80-99%)
HP:0000966	Hypohidrosis	Frequent (30-79%)
HP:0000238	Hydrocephalus	Occasional (5-29%)
HP:0004322	Short stature	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	amelocerebrohypohidrotic syndrome
Mondo ID	MONDO:0009185
MeSH	C537213
OMIM	226750
Orphanet	1946
DOID	DOID:0111668
SNOMED CT	109478007
UMLS	C0406740
MedGen	98036
GARD	0003128
Is cancer (heuristic)	no

Also known as: amelocerebrohypohidrotic syndrome · epilepsy dementia amelogenesis imperfecta · epilepsy-dementia-amelogenesis imperfecta syndrome · Kohlschutter Tonz syndrome · KOHLSCHUTTER-Tonz syndrome · Kohlschutter-Tonz syndrome · KTZS

Data availability: 602 ClinVar variants · 6 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › syndromic disease › ectodermal dysplasia syndrome › amelocerebrohypohidrotic syndrome

Related subtypes (119): ADULT syndrome, autosomal dominant palmoplantar keratoderma and congenital alopecia, ameloonychohypohidrotic syndrome, ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, anonychia with flexural pigmentation, Böök syndrome, blepharocheilodontic syndrome, Stern-Lubinsky-Durrie syndrome, dermatopathia pigmentosa reticularis, dermo-odonto dysplasia, Rapp-Hodgkin syndrome, Clouston syndrome, ectodermal dysplasia, trichoodontoonychial type, gingival fibromatosis-hypertrichosis syndrome, hypertrichosis cubiti-short stature syndrome, Johnson neuroectodermal syndrome, Marshall syndrome, Naegeli-Franceschetti-Jadassohn syndrome, oculodentodigital dysplasia, Cronkhite-Canada syndrome, scalp-ear-nipple syndrome, tooth and nail syndrome, tricho-dento-osseous syndrome, tricho-retino-dento-digital syndrome, acrofacial dysostosis, Weyers type, Ackerman syndrome, alopecia - contractures - dwarfism - intellectual disability syndrome, AREDYLD syndrome, Barber-Say syndrome, oculoosteocutaneous syndrome, cataract-hypertrichosis-intellectual disability syndrome, autosomal recessive palmoplantar keratoderma and congenital alopecia, cerebellar ataxia-ectodermal dysplasia syndrome, cranioectodermal dysplasia, conductive deafness-ptosis-skeletal anomalies syndrome, dermatoosteolysis, Kirghizian type, Dubowitz syndrome, ectodermal dysplasia-sensorineural deafness syndrome, ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome, hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome, cleft lip/palate-ectodermal dysplasia syndrome, EEM syndrome, Ellis-van Creveld syndrome, GAPO syndrome, ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome, Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome, Dahlberg-Borer-Newcomer syndrome, cartilage-hair hypoplasia, oculotrichodysplasia, pilodental dysplasia-refractive errors syndrome, Bartsocas-Papas syndrome 1, ectodermal dysplasia-blindness syndrome, Schinzel-Giedion syndrome, Teebi-Shaltout syndrome, taurodontia-absent teeth-sparse hair syndrome, odontotrichomelic syndrome, trichomegaly-retina pigmentary degeneration-dwarfism syndrome, trichoodontoonychial dysplasia, CHIME syndrome, anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome, Ito hypomelanosis, contractures-ectodermal dysplasia-cleft lip/palate syndrome, incontinentia pigmenti, Toriello-Lacassie-Droste syndrome, odontomicronychial dysplasia, ectodermal dysplasia with natal teeth, Turnpenny type, hidrotic ectodermal dysplasia, Christianson-Fourie type, trichodental syndrome, congenital hypotrichosis with juvenile macular dystrophy, tricho-oculo-dermo-vertebral syndrome, odonto-tricho-ungual-digito-palmar syndrome, Fried’s tooth and nail syndrome, limb-mammary syndrome, epidermolysis bullosa simplex due to plakophilin deficiency, arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Curly hair - acral keratoderma - caries syndrome, hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome, Lelis syndrome, Fontaine progeroid syndrome, ectodermal dysplasia-syndactyly syndrome, ectodermal dysplasia 5, hair/nail type, nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome, ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, cardiofaciocutaneous syndrome, choroidal atrophy-alopecia syndrome, dyskeratosis congenita, hidrotic ectodermal dysplasia, Halal type, hypertrichosis lanuginosa congenita, hypohidrotic ectodermal dysplasia, odonto-onycho dysplasia-alopecia syndrome, pili torti-onychodysplasia syndrome, chondroectodermal dysplasia with night blindness, trichorhinophalangeal syndrome, trichothiodystrophy, trichodermodysplasia-dental alterations syndrome, autosomal dominant trichoodontoonychodysplasia-syndactyly, focal facial dermal dysplasia, KID syndrome, pure hair and nail ectodermal dysplasia, circumscribed palmoplantar hypokeratosis, trichodysplasia-amelogenesis imperfecta syndrome, dermotrichic syndrome, alves Castelo dos Santos syndrome, Brunoni syndrome, ectodermal dysplasia Bartalos type, ectodermal dysplasia margarita type, ectodermal dysplasia alopecia preaxial polydactyly, ectodermal dysplasia arthrogryposis diabetes mellitus, ectodermal dysplasia blindness, ectodermal dysplasia neurosensory deafness, ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, ectodermal dysplasia 15, hypohidrotic/hair type, linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies, jones hersh yusk syndrome, ectodermal dysplasia 13, hair/tooth type, arthrogryposis-ectodermal dysplasia-other anomalies syndrome, ectodermal dysplasia WNT10A related, CTSC-related disorder, ectodermal dysplasia 17 with or without limb malformations

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

600 retrieved; paginated sample, class counts are floors:

266 likely benign, 240 uncertain significance, 29 pathogenic, 19 conflicting classifications of pathogenicity, 18 benign, 16 likely pathogenic, 9 benign/likely benign, 3 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1069190	NM_024589.3(ROGDI):c.402C>A (p.Tyr134Ter)	ROGDI	Pathogenic	criteria provided, single submitter
1072900	NM_024589.3(ROGDI):c.652dup (p.Arg218fs)	ROGDI	Pathogenic	criteria provided, single submitter
1378437	NM_024589.3(ROGDI):c.52G>T (p.Glu18Ter)	ROGDI	Pathogenic	criteria provided, single submitter
1418819	NM_024589.3(ROGDI):c.103C>T (p.Gln35Ter)	ROGDI	Pathogenic	criteria provided, single submitter
1453406	NM_024589.3(ROGDI):c.581_593del (p.Ile194fs)	ROGDI	Pathogenic	criteria provided, single submitter
1453951	NM_024589.3(ROGDI):c.250C>T (p.Gln84Ter)	ROGDI	Pathogenic	criteria provided, single submitter
1454706	NM_024589.3(ROGDI):c.613C>T (p.Gln205Ter)	ROGDI	Pathogenic	criteria provided, single submitter
1965952	NM_024589.3(ROGDI):c.208C>T (p.Gln70Ter)	ROGDI	Pathogenic	criteria provided, single submitter
1997122	NM_024589.3(ROGDI):c.232C>T (p.Gln78Ter)	ROGDI	Pathogenic	criteria provided, single submitter
2024107	NM_024589.3(ROGDI):c.169A>T (p.Lys57Ter)	ROGDI	Pathogenic	criteria provided, single submitter
2871016	NM_024589.3(ROGDI):c.331C>T (p.Gln111Ter)	ROGDI	Pathogenic	criteria provided, single submitter
2912225	NM_024589.3(ROGDI):c.152dup (p.Thr52fs)	ROGDI	Pathogenic	criteria provided, single submitter
3000675	NM_024589.3(ROGDI):c.-3_45+8del	ROGDI	Pathogenic	criteria provided, single submitter
31225	NM_024589.3(ROGDI):c.229_230del (p.Leu77fs)	ROGDI	Pathogenic	criteria provided, multiple submitters, no conflicts
31226	NM_024589.3(ROGDI):c.286C>T (p.Gln96Ter)	ROGDI	Pathogenic	criteria provided, multiple submitters, no conflicts
31228	NM_024589.3(ROGDI):c.532-2A>T	ROGDI	Pathogenic	criteria provided, single submitter
31229	NM_024589.3(ROGDI):c.469C>T (p.Arg157Ter)	ROGDI	Pathogenic	criteria provided, multiple submitters, no conflicts
3243368	NC_000016.10:g.(?4797440)(4802591_?)del	ROGDI	Pathogenic	criteria provided, single submitter
3606336	NM_024589.3(ROGDI):c.652del (p.Arg218fs)	ROGDI	Pathogenic	criteria provided, single submitter
3775229	NM_024589.3(ROGDI):c.646-2A>G	ROGDI	Pathogenic	criteria provided, single submitter
3775797	NM_024589.3(ROGDI):c.63G>A (p.Trp21Ter)	ROGDI	Pathogenic	criteria provided, single submitter
41465	NM_024589.3(ROGDI):c.507del (p.Glu170fs)	ROGDI	Pathogenic	criteria provided, multiple submitters, no conflicts
453294	NM_024589.3(ROGDI):c.506_507dup (p.Glu170fs)	ROGDI	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
461607	NM_024589.3(ROGDI):c.340C>T (p.Gln114Ter)	ROGDI	Pathogenic	criteria provided, multiple submitters, no conflicts
4710243	NM_024589.3(ROGDI):c.402C>G (p.Tyr134Ter)	ROGDI	Pathogenic	criteria provided, single submitter
4725854	NM_024589.3(ROGDI):c.71_72insT (p.Asp25fs)	ROGDI	Pathogenic	criteria provided, single submitter
504177	NM_024589.3(ROGDI):c.334C>T (p.Gln112Ter)	ROGDI	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
530797	NM_024589.3(ROGDI):c.665dup (p.Ala223fs)	ROGDI	Pathogenic	criteria provided, single submitter
565630	NM_024589.3(ROGDI):c.117+1G>A	ROGDI	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
654553	NM_024589.3(ROGDI):c.302_308dup (p.Glu104fs)	ROGDI	Pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 11 · Orphanet: 3 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
ROGDI	Definitive	Autosomal recessive	amelocerebrohypohidrotic syndrome	5
SLC13A5	Supportive	Autosomal recessive	amelocerebrohypohidrotic syndrome	6

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
ROGDI	Orphanet:1946	Amelocerebrohypohidrotic syndrome
SLC13A5	Orphanet:1946	Amelocerebrohypohidrotic syndrome
SLC13A5	Orphanet:442835	Non-specific early-onset epileptic encephalopathy

Cohort genes → proteins

3 cohort genes, 3 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	3

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
ROGDI	HGNC:29478	ENSG00000067836	Q9GZN7	Protein rogdi homolog	gencc,clinvar
SLC13A5	HGNC:23089	ENSG00000141485	Q86YT5	Na(+)/citrate cotransporter	gencc
ADCY9	HGNC:240	ENSG00000162104	O60503	Adenylate cyclase type 9	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SLC13A5	Na(+)/citrate cotransporter	High-affinity sodium/citrate cotransporter that mediates the entry of citrate into cells, which is a critical participant of biochemical pathways.
ADCY9	Adenylate cyclase type 9	Adenylyl cyclase that catalyzes the formation of the signaling molecule cAMP in response to activation of G protein-coupled receptors.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 3 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Other/Unknown	3	1.8×	0.174

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
ROGDI	Other/Unknown	no		RAVE2/Rogdi
SLC13A5	Other/Unknown	no		SLC13A/DASS, Na/sul_symport_CS
ADCY9	Other/Unknown	no		A/G_cyclase, A/G_cyclase_CS, Nucleotide_cyclase

Expression context

Cohort genes with no expression data: 0.

2 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	3
unknown	0

Top tissues across cohort

Tissue	Cohort genes
C1 segment of cervical spinal cord	1
cerebellar hemisphere	1
right hemisphere of cerebellum	1
liver	1
parotid gland	1
right lobe of liver	1
choroid plexus epithelium	1
secondary oocyte	1
vastus lateralis	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ROGDI	250	ubiquitous	marker	right hemisphere of cerebellum, C1 segment of cervical spinal cord, cerebellar hemisphere
SLC13A5	148	broad	yes	right lobe of liver, liver, parotid gland
ADCY9	296	ubiquitous	marker	secondary oocyte, choroid plexus epithelium, vastus lateralis

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
SLC13A5	1,574
ADCY9	1,492
ROGDI	603

Intra-cohort edges

A	B	Sources
ROGDI	SLC13A5	string_interaction

Structural data

PDB: 3 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
ADCY9	O60503	6
SLC13A5	Q86YT5	4
ROGDI	Q9GZN7	2

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 50. Enrichment computed across 3 evidence-associated genes (2 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
SLC-mediated transport of organic anions	1	1903.3×	0.014	SLC13A5
Sodium-coupled sulphate, di- and tri-carboxylate transporters	1	1142.0×	0.014	SLC13A5
Adenylate cyclase activating pathway	1	571.0×	0.014	ADCY9
Adenylate cyclase inhibitory pathway	1	380.7×	0.014	ADCY9
PKA activation in glucagon signalling	1	335.9×	0.014	ADCY9
PKA activation	1	317.2×	0.014	ADCY9
Activation of GABAB receptors	1	300.5×	0.014	ADCY9
PKA-mediated phosphorylation of CREB	1	285.5×	0.014	ADCY9
GABA B receptor activation	1	271.9×	0.014	ADCY9
Anti-inflammatory response favouring Leishmania parasite infection	1	196.9×	0.014	ADCY9
Leishmania parasite growth and survival	1	196.9×	0.014	ADCY9
Calmodulin induced events	1	190.3×	0.014	ADCY9
CaM pathway	1	190.3×	0.014	ADCY9
Ca-dependent events	1	184.2×	0.014	ADCY9
Aquaporin-mediated transport	1	184.2×	0.014	ADCY9
Glucagon signaling in metabolic regulation	1	173.0×	0.014	ADCY9
G-protein mediated events	1	163.1×	0.014	ADCY9
DAG and IP3 signaling	1	158.6×	0.014	ADCY9
GABA receptor activation	1	158.6×	0.014	ADCY9
Response of endothelial cells to shear stress	1	150.3×	0.014	ADCY9
FCGR3A-mediated IL10 synthesis	1	146.4×	0.014	ADCY9
Opioid Signalling	1	132.8×	0.014	ADCY9
PLC beta mediated events	1	132.8×	0.014	ADCY9
Vasopressin regulates renal water homeostasis via Aquaporins	1	132.8×	0.014	ADCY9
Cellular responses to mechanical stimuli	1	129.8×	0.014	ADCY9
ADORA2B mediated anti-inflammatory cytokines production	1	126.9×	0.014	ADCY9
GPER1 signaling	1	124.1×	0.014	ADCY9
Transport of small molecules	2	25.1×	0.014	SLC13A5, ADCY9
G alpha (z) signalling events	1	116.5×	0.015	ADCY9
Signaling by Hedgehog	1	92.1×	0.017	ADCY9

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 3 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
succinate transport	1	5617.3×	0.004	SLC13A5
oxaloacetate transport	1	2808.7×	0.004	SLC13A5
fumarate transport	1	2808.7×	0.004	SLC13A5
citrate transport	1	1872.4×	0.004	SLC13A5
alpha-ketoglutarate transport	1	1404.3×	0.004	SLC13A5
pH reduction	1	802.5×	0.006	ROGDI
locomotion	1	510.7×	0.007	ROGDI
cAMP biosynthetic process	1	468.1×	0.007	ADCY9
enamel mineralization	1	401.2×	0.007	ROGDI
adenylate cyclase-activating adrenergic receptor signaling pathway	1	401.2×	0.007	ADCY9
cellular response to lithium ion	1	374.5×	0.007	SLC13A5
locomotor rhythm	1	351.1×	0.007	ROGDI
cellular response to glucagon stimulus	1	280.9×	0.008	ADCY9
vascular endothelial cell response to laminar fluid shear stress	1	244.2×	0.009	ADCY9
neuromuscular process	1	175.5×	0.011	ROGDI
renal water homeostasis	1	170.2×	0.011	ADCY9
odontogenesis of dentin-containing tooth	1	100.3×	0.018	ROGDI
bone mineralization	1	90.6×	0.018	ROGDI
hemopoiesis	1	89.2×	0.018	ROGDI
neurogenesis	1	69.3×	0.022	ROGDI
memory	1	61.1×	0.023	ROGDI
transmembrane transport	1	56.2×	0.024	SLC13A5
adenylate cyclase-activating G protein-coupled receptor signaling pathway	1	37.7×	0.034	ADCY9
gene expression	1	26.6×	0.045	ROGDI
brain development	1	26.5×	0.045	ROGDI
in utero embryonic development	1	24.0×	0.047	ADCY9
response to xenobiotic stimulus	1	23.0×	0.048	ROGDI
intracellular signal transduction	1	12.7×	0.082	ADCY9
positive regulation of cell population proliferation	1	11.2×	0.090	ROGDI
signal transduction	1	5.3×	0.176	ADCY9

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 3

Druggability breadth: 2 of 3 evidence-associated genes (67%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
ROGDI	0	0
SLC13A5	0	0
ADCY9	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
ADCY9	18	Binding:16, Functional:2
SLC13A5	14	Binding:11, Functional:3

Pharmacogenomics

Cohort genes with a PharmGKB record: 3; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	3	ROGDI, SLC13A5, ADCY9

Undrugged target profiles

3 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
ROGDI	0	—
SLC13A5	14	—
ADCY9	18	—

Clinical trials & evidence

Clinical trials

Clinical trials: 2.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04681781	Not specified	ENROLLING_BY_INVITATION	SLC13A5 Deficiency Natural History Study - Remote Only
NCT06144957	Not specified	ENROLLING_BY_INVITATION	SLC13A5 Deficiency Natural History Study - United States Only