Full archive

Kabuki syndrome type 1

Tuberous sclerosis complex

Neurodevelopmental disorder with intellectual disability, congenital ataxia, hypotonia, seizures, and cerebellar vermis hypoplasia

Mucopolysaccharidoses (MPS I, II, IVA, VI) — nationwide newborn screening

Novel autosomal recessive NDD: intellectual disability, nystagmus and retinal dysfunction

Congenital ventriculomegaly/hydrocephalus and neurodevelopmental disorder

Hereditary demyelinating peripheral neuropathy (CMT1E / HNPP)

SCAR20 (autosomal recessive spinocerebellar ataxia type 20)

Genetic diseases across all specialties — real-world first-tier WGS benchmark (Denmark)

HNRNPH2-related NDD (X-linked, developmental delay, intellectual disability, motor disturbance)

KCC2-developmental and epileptic encephalopathy (KCC2-DEE) — severe neonatal EIMFS

NDD — genotype–phenotype correlation driven by variant location

Novel syndromic NDD + congenital malformations (mostly genitourinary) + epilepsy

Osteogenesis imperfecta

RAC1-related neurodevelopmental disorder

Mitochondriopathy with complex I deficiency (severe congenital heart defects, hematological abnormalities, Leigh syndrome-like neurological involvement)

Genetic diagnoses in pediatric and cardiac intensive care units (rare diseases in acute care settings)

Pediatric cardiomyopathy with acute heart failure

FGF12 (FHF1)-related early-onset epileptic encephalopathies — treatment with sodium channel blockers

SCA27B — cerebellar ataxia with downbeat nystagmus (A-DBN)

Neurodevelopmental disorder with inter- and intrafamilial phenotypic variability

Familial hypertrophic cardiomyopathy (HCM)

Atypical parkinsonian syndrome mimicking multiple system atrophy (MSA-like)

Pyridoxine-dependent epilepsy (PDE-ALDH7A1) — treatable epileptic encephalopathy

Hereditary cardiomyopathies (HCM, DCM) with high risk of ventricular arrhythmia and sudden death

Ornithine transcarbamylase deficiency (OTCD, MIM#311250) — urea cycle disorder

Transient antenatal Bartter syndrome (TABS) — X-linked fetal salt-losing syndrome

Fetal anomalies (aneuploidies, CNVs, SNVs, structural variants, regions of absence of heterozygosity)

Inherited cardiomyopathy / arrhythmia (Brugada, long QT, etc.) — new mechanism of action

Gordon-Holmes syndrome (HH + severe ataxia + dementia — MIM#212840)

P450 oxidoreductase deficiency (PORD — MIM#613571) — severe form

X-linked NDD (ZFX syndrome) — female presentation

Kallmann syndrome — HH16 (MIM#614897)

Male infertility — teratozoospermia

Stargardt disease — STGD1 (MIM#248200)

RYR1-related disorders (malignant hyperthermia, congenital myopathy, rhabdomyolysis)

Mosaic neurofibromatosis type 1

Genetic drug-resistant epilepsy

Autosomal recessive single-gene disorders (non-invasive prenatal diagnosis)

Non-isolated Dandy-Walker malformation

Autosomal dominant non-syndromic sensorineural hearing loss (DFNA9)

Urea cycle disorders (7 diseases: OTC, CPS1, ASS1, ASL, ARG1, NAGS, citrin deficiency)

3MC syndrome (Malpuech-Michels-Mingarelli-Carnevale syndrome) — craniofacial malformations, limb anomalies, intellectual disability

Atypical Fanconi anemia without major hematological abnormalities in childhood

CTLA4-related immune dysregulation (CTLA4 haploinsufficiency — CHAI) — autoimmunity, lymphoproliferation, cytopenias

Fertilization failure and male infertility — NUP210L deficiency (nuclear pore complex component)

Cardiospondylocarpofacial syndrome (CSCF)

MODY (maturity-onset diabetes of the young) — population study

NSUN3 mitochondrial disease + hypertrophic cardiomyopathy (phenotypic expansion)

NEDAMSS (MIM#618088) + West syndrome

PLACK syndrome (MIM#616295) + severe dilated cardiomyopathy (phenotypic expansion)

Cerebral small vessel disease (CSVD)

Myhre syndrome (multisystemic fibrosis)

Hereditary sensory and autonomic neuropathy type 9 (HSAN9)

Primary hereditary microcephaly and syndromic primary microcephaly

ESAM congenital tight-junctionopathy

SREBF1-syndromic epidermal differentiation disorder (SREBF1-sEDD)

STEAP3 biallelic neonatal hemophagocytic lymphohistiocytosis

Multiple congenital anomalies with pituitary gland malformation — expanded FOXA2 spectrum

Movement disorder with tremor and dystonia — novel ITPR1 gain-of-function mechanism

Meier-Gorlin syndrome (MGORS — primordial dwarfism) — phenotypic expansion

Syndromic aortopathy — overlap with Loeys–Dietz syndrome 2 (MIM#610168)