ORPHA:477673
Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
Publications
2,075
Trials
0
Interventional, condition-specific
Researchers
167
Distinct authors in sample
Gene link
GPT2
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic neurological disorder characterized by postnatal microcephaly, during infancy followed in most cases by spasticity mainly affecting the lower limbs, and spastic diplegia or paraplegia, , delayed or absent speech, and dysarthria. and mildly features have been described in some patients.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0014567
- OMIM:616281
- UMLS:C4225388
Additional Mondo synonyms (7)
GPT2 Deficiency · GPT2 deficiency · glutamate pyruvate transaminase 2 deficiency · mental retardation, autosomal recessive 49 · mental retardation, autosomal recessive type 49 · neurodevelopmental disorder with microcephaly and spastic paraplegia · postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — GPT2
- LiteraturePresent
2,075 matched papers (1,714 in last 10 years) Source
- Phenotype characterisedPresent
47 HPO annotations (e.g. Microcephaly; Hypotelorism; Dysarthria) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (GPT2).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
47
Associated phenotypes · MONDO:0014567
- Microcephaly
- Hypotelorism
- Dysarthria
- Global developmental delay
- Gait disturbance
Showing 5 of 47 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
2,075
2,075 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
2,075 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
1,714 in the last 10 years · low confidence
Phrase hits: 18 · MeSH hits: 0
Who's working on it?
167
Distinct author names in 18 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Morrow EM7 papers · 2026
Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, Providence, RI 02912; Institute for Brain Science, Brown University, Providence, RI 02912; Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital and Department of Psychiatry and Human Behavior, Alpert Medical School of Brown University, East Providence, RI 02915; dhousman@mit.edu Ganesh.Mochida@childrens.harvard.edu Eric_Morrow@brown.edu.
Papers in Europe PMC - 02DeBerardinis RJ5 papers · 2026
Children's Research Institute and Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA. Ralph.Deberardinis@UTSouthwestern.edu.
Papers in Europe PMC - 03Baytas O4 papers · 2024
Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, Providence, RI 02912; Institute for Brain Science, Brown University, Providence, RI 02912;
Papers in Europe PMC - 04Davidson SM3 papers · 2024
Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139;
Papers in Europe PMC - 05Mathews TP3 papers · 2026
Children's Research Institute and Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Papers in Europe PMC - 06Ouyang Q3 papers · 2026
Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, Providence, RI 02912; Institute for Brain Science, Brown University, Providence, RI 02912; Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital and Department of Psychiatry and Human Behavior, Alpert Medical School of Brown University, East Providence, RI 02915;
Papers in Europe PMC - 07Schmidt M3 papers · 2026
Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, Providence, RI 02912; Institute for Brain Science, Brown University, Providence, RI 02912; Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital and Department of Psychiatry and Human Behavior, Alpert Medical School of Brown University, East Providence, RI 02915;
Papers in Europe PMC - 08Abdullah KG2 papers · 2026
Department of Neurosurgery, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Papers in Europe PMC - 09Agathocleous M2 papers · 2026
Children's Medical Center Research Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Papers in Europe PMC - 10Banaszynski LA2 papers · 2026
Children's Medical Center Research Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (2)
- isrctn·ISRCTN03148609·No longer recruiting·Clinical study comparing the nifurtimox-eflornithine combination with the standard eflornithine regimen for the treatment of Trypanosoma brucei gambiense human African trypanosomiasis in the meningo-encephalitic phase
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN53344556·No longer recruiting·Randomised, Double-blinded, Placebo-controlled Clinical Trial of Pandemic Influenza Inactive Vaccine on Healthy Subjects
skipped — LLM skipped (--skip-llm)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
("Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome" OR "GPT2 Deficiency" OR "glutamate pyruvate transaminase 2 deficiency" OR "mental retardation, autosomal recessive 49" OR "mental retardation, autosomal recessive type 49" OR "neurodevelopmental disorder with microcephaly and spastic paraplegia") OR ("GPT2" OR "GPT2 syndrome" OR "GPT2-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome" OR "GPT2 Deficiency" OR "glutamate pyruvate transaminase 2 deficiency" OR "mental retardation, autosomal recessive 49" OR "mental retardation, autosomal recessive type 49" OR "neurodevelopmental disorder with microcephaly and spastic paraplegia"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (2075) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T17:07:42.625Z