Terkko Navigator / Clinical Dysmorphology

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.

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.

Recurrent c.776T>C mutation in CHST3 with four other novel mutations and a literature review.

Clinical and genetic characterization of congenital lipoid adrenal hyperplasia.

Arthrogryposis as a presenting feature of nail-patella syndrome: a lesser-known feature and the perils of negative whole-genome sequencing.

Limb anomalies, microcephaly, dysmorphic facial features and fibroma of the tongue after failed abortion with methotrexate and misoprostol.

A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type.

Two cases of Nicolaides-Baraitser syndrome, one with a novel SMARCA2 variant.

A further patient with genitopatellar syndrome requiring multidisciplinary management.

Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kucinskas syndrome in two Czech Roma brothers.

A child with rhombencephalosynapsis, agenesis of the trigeminal ganglion and optic coloboma (without alopecia): a variant of the cerebellotrigeminal dermal dysplasia?.

8p23.2p22 deletion: a case report of a large deletion encompassing 8p23.1 with additional clinical features.

A de-novo 15q24.2 deletion involving SIN3A is associated with emotional, behavioural, motor problems and hypersensitivity in a girl with above average intelligence and typical facial features.

A de-novo NFIX mutation causes a case of neonatal lethal Marshall-Smith syndrome.

Expansion of the phenotypic spectrum of SMC1A nonsense variants: a patient with cerebellar atrophy and review of the literature.

Recurrent c.776T>C mutation in CHST3 with four other novel mutations and a literature review.

Clinical and genetic characterization of congenital lipoid adrenal hyperplasia.

Arthrogryposis as a presenting feature of nail-patella syndrome: a lesser-known feature and the perils of negative whole-genome sequencing.

Limb anomalies, microcephaly, dysmorphic facial features and fibroma of the tongue after failed abortion with methotrexate and misoprostol.

A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type.