Terkko Navigator / Clinical Dysmorphology

Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome.

Rare chromosomal aberrations detected in children with multiple congenital anomalies: utility of multiple ligation dependant probe amplification for developing countries.

Clinical delineation of an adult female patient with a rare interstitial 10q24.32q25.1 microdeletion.

A proximal 300kb deletion further defining critical regions in 4q25 syndrome.

6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability.

KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant.

Prenatal differential diagnosis of fibular agenesis, tibial campomelia and oligosyndactyly.

A very rare skeletal dysplasia: spondyloepimetaphyseal dysplasia, sponastrime type.

Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1).

Second reported individual with a partial STAG2 deletion: middle interhemispheric variant holoprosencephaly in STAG2-related cohesinopathy.

Rare case of dual diagnosis in consanguineous family: a case report.

A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1.

Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?.

Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly.

Chromosome 4q28.3q32.3 duplication in a patient with lymphatic malformations, craniosynostosis, and dysmorphic features.

Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: a novel finding in whole exome sequencing.

Distal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 gene.

X-linked BCOR-related syndrome in two male siblings.

Alpha-mannosidosis in a family: natural history with an uncommon retinal dystrophy.

A second report of recessive type COL4A1-related disorder: a novel homozygous missense variant.

A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1.

Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?.

Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly.

Chromosome 4q28.3q32.3 duplication in a patient with lymphatic malformations, craniosynostosis, and dysmorphic features.

Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: a novel finding in whole exome sequencing.

Distal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 gene.

X-linked BCOR-related syndrome in two male siblings.

Alpha-mannosidosis in a family: natural history with an uncommon retinal dystrophy.

A second report of recessive type COL4A1-related disorder: a novel homozygous missense variant.

Expanding the phenotype of PURA-related neurodevelopmental disorder: a close differential diagnosis of infantile hypotonia with psychomotor retardation and characteristic facies.

Mongolian spots in GM1 gangliosidosis: a pictorial report.

Novel clinical features and pleiotropic effect in three unrelated patients with LMNA variant.

Female congenital aphallia: a unique case of congenital absence of the clitoris with an ectopic labium majorum.

TRIO-related intellectual disability with microcephaly: a case report of a patient with novel clinical findings.

Temple-Baraitser syndrome with KCNH1 Asn510Thr: a new case report.

Novel missense mutation c.1784A>G, p.Tyr595Cys in RPS6KA3 gene responsible for Coffin-Lowry syndrome in a family with variable features and diabetes 2.

Novel c.1505_1509dupCTGCC pathogenic variation in a male case with Christianson syndrome.

A novel HIST1HE pathogenic variant in a girl with macrocephaly and intellectual disability: a new case and review of literature.

SOX11-related syndrome: report on a new case and review.

When Rothmund-Thomson syndrome is not: two new cases of Clericuzio-type poikiloderma with neutropenia.

A patient with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia syndrome caused by AP1B1 gene variant.

Distinguishing Marshall from Stickler syndrome: a clinical and genetic challenge.

Desbuquois dysplasia Kim variant: a rare case report syndrome.

A child with congenital short gut associated with DYNC2LI1 ciliopathy.

Delayed diagnosis of Williams-Beuren syndrome in an adolescent of Jamaican descent: examining racial disparities in genetics education.

Expanding the phenotype of PURA-related neurodevelopmental disorder: a close differential diagnosis of infantile hypotonia with psychomotor retardation and characteristic facies.

Mongolian spots in GM1 gangliosidosis: a pictorial report.

Novel clinical features and pleiotropic effect in three unrelated patients with LMNA variant.

Female congenital aphallia: a unique case of congenital absence of the clitoris with an ectopic labium majorum.

TRIO-related intellectual disability with microcephaly: a case report of a patient with novel clinical findings.