ORPHA:199642
Isolated congenital microcephaly
Publications
554
78.5th percentile
Trials
0
Interventional, condition-specific
Researchers
1,434
Distinct authors in sample
Gene link
—
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with , , , balance disturbances, hearing loss or vision problems.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0016056
- UMLS:C0025958
Additional Mondo synonyms (1)
microcephaly, primary
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.”
4/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
554 matched papers (346 in last 10 years) Source
- Phenotype characterisedPresent
502 HPO annotations (e.g. Microcephaly; Global developmental delay; Growth delay) Source
- Animal modelPresent
7 genotype models (Danio rerio, Mus musculus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPartial
None under the specific name; 5 for broader category microcephaly
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
502
Associated phenotypes · MONDO:0016056
- Microcephaly
- Global developmental delay
- Growth delay
- Short stature
- Unilateral renal agenesis
Showing 5 of 502 — open Monarch for the full list.
Animal models (Monarch / Alliance)
7
Model associations linked to this Mondo ID
- zf195Tg + MO1-dync1i2a·ZFIN:ZDB-FISH-200401-4·Danio rerio
- ankle2oi5/oi5 (AB)·ZFIN:ZDB-FISH-230630-1·Danio rerio
- knl1ulb10/ulb10·ZFIN:ZDB-FISH-210721-21·Danio rerio
- rrp7asa11429/sa11429 (AB/TL)·ZFIN:ZDB-FISH-220314-1·Danio rerio
- knl1ulb9/ulb9·ZFIN:ZDB-FISH-210721-22·Danio rerio
- zf195Tg + CRISPR1-dync1i2a·ZFIN:ZDB-FISH-200401-2·Danio rerio
- Wdr62tm1.1Jfch/Wdr62tm1.1Jfch [background:] involves: 129S1/SvImJ * C57BL/6N·MGI:6388425·Mus musculus
Monarch fetch 2026-07-27
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?
554
554 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.
554 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).
346 in the last 10 years · high confidence · 78.5th percentile (publications denominator)
Phrase hits: 554 · MeSH hits: 0
Who's working on it?
1,434
Distinct author names in 200 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.
- 01Hussain MS9 papers · 2025
Cologne Center for Genomics (CCG), Institute of Biochemistry I, Medical Faculty.
Papers in Europe PMC - 02Baig SM8 papers · 2024
Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.
Papers in Europe PMC - 03Drunat S8 papers · 2025
Department of Genetics, APHP - Hôpital Robert Debré, Paris, France
Papers in Europe PMC - 04Kaindl AM7 papers · 2023
Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Germany; Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin, Germany. Electronic address: angela.kaindl@charite.de.
Papers in Europe PMC - 05Nürnberg P7 papers · 2023
Cologne Center for Genomics (CCG), Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) and, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.
Papers in Europe PMC - 06Passemard S7 papers · 2025
Denis Diderot Medical School, Sorbonne Paris Cité, Paris, France
Papers in Europe PMC - 07Verloes A7 papers · 2025
Denis Diderot Medical School, Sorbonne Paris Cité, Paris, France
Papers in Europe PMC - 08Asif M6 papers · 2025
Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.
Papers in Europe PMC - 09Aslam K6 papers · 2024
Department of Statistics, Kinnaird College for Women, Lahore, Pakistan.
Papers in Europe PMC - 10Altmüller J5 papers · 2021
Cologne Center for Genomics (CCG), Institute of Human Genetics.
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). 5 trials are registered for microcephaly, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 9 September 2026 · last trial check 9 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.
high 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.
5 interventional trials matched microcephaly, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: microcephaly
5
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT05518188·RECRUITING·Melpida: Recombinant Adeno-associated Virus (Serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt)
Conditions: Spasticity, Muscle · Microcephaly · Intellectual Deficiency · Growth Retardation·Matched via name phrase
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 62 · after dedupe 62 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 22 · dropped 40 · fetched 2026-07-27
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 (22)
- ctis·2025-523858-13-01·Authorised·High-dose Insulin Euglycemic Therapy in Non-Toxic Acute Cardiogenic Shock.
skipped — Beyond per-disease secondary LLM cap
- ctis·2026-525747-33-00·Authorised·Progesterone Luteal Support in Unexplained Infertility Management (PLUIM study)
skipped — Beyond per-disease secondary LLM cap
- ctis·2025-524397-42-00·Authorised·A Phase 2/3 Study to Characterize and Evaluate the Efficacy, Safety, and Tolerability of hu14.18K322A Treatment Given in Combination with Chemotherapy in Participants with High-Risk Neuroblastoma
skipped — Beyond per-disease secondary LLM cap
- ctis·2025-525001-21-00·Authorised·Methoxyflurane versus Standard Care for Non-Traumatic Pain in the Emergency Department (PAIN-THROX) : A Multicenter, Randomized, Controlled, Superiority Trial
skipped — Beyond per-disease secondary LLM cap
- ctis·2025-524148-36-00·Authorised·Randomised open-label pilot Study on Thiamine supplementation to REduce braiN injury associated with chronic Alcohol use in outpatients with alcohol use disorder : STRENA
skipped — Beyond per-disease secondary LLM cap
- ctis·2025-525058-20-00·Authorised·CLARITHROMYCIN TO PREVENT SECONDARY INFECTIONS IN PATIENTS WITH SEPSIS FOLLOWING LOWER RESPIRATORY TRACT INFECTIONS: THE CLASSIFY TRIAL
skipped — Beyond per-disease secondary LLM cap
- ctis·2026-525531-16-00·Authorised·A Randomized Phase III Study to Investigate the Efficacy and Safety of Alpha1H as a Neoadjuvant Therapy in Participants with Low- to Intermediate-Risk/Low-Grade Papillary Non-Muscle Invasive Bladder Cancer
skipped — Beyond per-disease secondary LLM cap
- ctis·2026-526314-90-00·Authorised·Unprescribing the Pill to Reassess Symptom and Cognitive Recovery in Depression (UNPRESCRIB-D)
skipped — Beyond per-disease secondary LLM cap
- ctis·2025-525121-13-00·Authorised·Randomized Evaluation of fleCAinide safety vs. STandard of care in patients with coronary artery disease and Atrial Fibrillation (ReCAST AF).
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-519299-16-00·Authorised·A 2-Part, Phase 3, Multicenter, Randomized, Open-Label, Active-Controlled Study to Assess Efficacy and Safety of REGN7508, a Monoclonal Antibody Against Factor XI, for the Treatment and Secondary Prevention of Venous Thromboembolism in Participants with Solid and Hematologic Cancers (ROXI-CAT-II)
skipped — Beyond per-disease secondary LLM cap
- ctis·2025-524312-11-00·Authorised·Everolimus bAsed caLcineurin inhibiTor frEe immunosuppRession oNe year AfTer lIver transplantatiON (ALTERNATION) – a randomized, prospective, multicenter, open-label, controlled phase III trial
skipped — Beyond per-disease secondary LLM cap
- ctis·2026-525658-13-00·Authorised·A multicentre, adaptive, randomised, multidomain, platform trial for dose optimization in the treatment of adult patients with haematological diseases (BLOOD-dose): core protocol
skipped — Beyond per-disease secondary LLM cap
- ctis·2026-525181-22-00·Authorised·ECETEP : Pilot study evaluating PSMA positron emission tomography for monitoring clinically significant prostate cancer after focal HIFU treatment
skipped — Beyond per-disease secondary LLM cap
- ctis·2025-523305-15-00·Authorised·THERIPEX - A phase I/II open label non-randomized study, monocentric, single-arm, evaluating Safety and Efficacy of induced T-CD4 Treg by LV vector transduction expressing the FoxP3 cDNA in patients with IPEX syndrom
skipped — Beyond per-disease secondary LLM cap
- ctis·2026-526167-38-00·Authorised·ALBUMINUS: Dose reduction of human albumin during large-volume paracentesis in patients with cirrhosis
skipped — Beyond per-disease secondary LLM cap
- ctis·2025-524481-15-00·Authorised·A Phase IIb, Non-Profit, Open-label Trial for the Intrathecal Administration of AAV9/AP4M1 for Hereditary Spastic Paraplegia Type 50 (SPG50).
skipped — Beyond per-disease secondary LLM cap
- ctis·2026-525611-13-00·Authorised·Treatment strategies for juvenile idiopathic arthritis patients with sustained inactive disease: A phase 4, multicentre, randomised trial comparing maintenance versus tapered TNF alpha inhibitor monotherapy - the Treat-JIA trial
skipped — Beyond per-disease secondary LLM cap
- ctis·2025-525157-39-00·Authorised·A Prospective, Randomized, Controlled, Multinational, Phase 2/3, Open-Label Trial to Evaluate the Efficacy and Safety of SIL204-SL Administered as an Integrated Therapeutic Regimen in Combination with Chemotherapy vs. Chemotherapy Treatment Alone in Participants with Locally Advanced Pancreatic Cancer
skipped — Beyond per-disease secondary LLM cap
- ctis·2025-521488-11-00·Authorised·Psilocybin-Assisted Psychotherapy for Posttraumatic Stress Disorder in Military Veterans: A Pilot Feasibility Study
skipped — Beyond per-disease secondary LLM cap
- ctis·2025-524048-36-00·Authorised·Paclitaxel plus ramucirumab and tislelizumab as switch maintenance versus continuation of chemotherapy and tislelizumab in patients with advanced HER2-negative and PD-L1 positive gastroesophageal adenocarcinoma: the ARMANI-2/ENGIC08 trial by GONO
skipped — Beyond per-disease secondary LLM cap
- ctis·2026-525643-32-00·Authorised·STOP - Safety and efficacy of a STOPping strategy versus classical maintenance dose of JAK inhibitors in deep remission patients with ulcerative colitis: a randomized controlled trial
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-511937-37-01·Authorised·A single arm single center exploratory observational phase II study, aimed to detect long term changes in volume of port-wine macrocheilia and color of port-wine stain in patients undergoing surgery and laser therapy during sirolimus treatment. Quality of life and efficacy and safety of sirolimus will be assessed.
skipped — Beyond per-disease secondary LLM cap
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 Isolated congenital microcephaly — 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.
"Isolated congenital microcephaly" OR "microcephaly, primary"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Isolated congenital microcephaly" OR "microcephaly, primary"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"microcephaly"
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
Ingested 2026-07-26T02:29:05.343Z