Terkko Navigator / Clinical Dysmorphology

Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly.

KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature.

Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation.

Colon hypoganglionosis in Beckwith-Wiedemann syndrome: a new rare comorbidity?.

Clinico-radiological and biochemical clues to early diagnosis of mucolipidosis type II.

Atypical medial femoral condylar fracture in Stuve-Wiedemann syndrome.

Two novel variants and follow-up findings in four children with Bloom syndrome from two families.

A novel homozygous frameshift mutation in the TUSC3 gene identified in siblings with intellectual disability.

A novel pathogenic variant in DOCK 7 gene in an infant with dysmorphism, epileptic encephalopathy and cortical blindness.

Myhre syndrome associated with hyperinsulinism and impaired glucose tolerance: a novel finding.

Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank-Ter Haar Syndrome.

Brain MRI findings in mandibulofacial dysostosis caused by EFTUD2 haploinsufficiency: a case report with polymicrogyria and dysmorphic caudate nuclei.

Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly.

KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature.

Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation.

Colon hypoganglionosis in Beckwith-Wiedemann syndrome: a new rare comorbidity?.

Clinico-radiological and biochemical clues to early diagnosis of mucolipidosis type II.

Atypical medial femoral condylar fracture in Stuve-Wiedemann syndrome.

Two novel variants and follow-up findings in four children with Bloom syndrome from two families.

A novel homozygous frameshift mutation in the TUSC3 gene identified in siblings with intellectual disability.

A novel pathogenic variant in DOCK 7 gene in an infant with dysmorphism, epileptic encephalopathy and cortical blindness.

Myhre syndrome associated with hyperinsulinism and impaired glucose tolerance: a novel finding.

Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank-Ter Haar Syndrome.

Brain MRI findings in mandibulofacial dysostosis caused by EFTUD2 haploinsufficiency: a case report with polymicrogyria and dysmorphic caudate nuclei.

Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly.

KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature.

Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation.

Colon hypoganglionosis in Beckwith-Wiedemann syndrome: a new rare comorbidity?.

Clinico-radiological and biochemical clues to early diagnosis of mucolipidosis type II.

Atypical medial femoral condylar fracture in Stuve-Wiedemann syndrome.

Two novel variants and follow-up findings in four children with Bloom syndrome from two families.

A novel homozygous frameshift mutation in the TUSC3 gene identified in siblings with intellectual disability.

A novel pathogenic variant in DOCK 7 gene in an infant with dysmorphism, epileptic encephalopathy and cortical blindness.

Myhre syndrome associated with hyperinsulinism and impaired glucose tolerance: a novel finding.

Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank-Ter Haar Syndrome.

Brain MRI findings in mandibulofacial dysostosis caused by EFTUD2 haploinsufficiency: a case report with polymicrogyria and dysmorphic caudate nuclei.

Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature.

Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism.

Triplication at 5q23.1 to 31.1 including LMNB1 in a patient with dilated cardiomyopathy, scoliosis and joint contractures.

A rare rearrangement of 5q31.2 in a child with a neurodevelopmental syndrome.

X-Autosome translocations: X-inactivation and effect on phenotype.

Overgrowth-associated partial trisomy 15q24.3-qter and mosaic 11p15.5 duplication involving Silver-Russell region in a patient with lateralized asymmetry and developmental delay.

Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1.

A novel frameshift variant in proximal exon 18 of KAT6B gene associated with an overlapping genitopatellar/say barber Biesecker-Young-Simpson syndrome phenotype.

CK syndrome: a rare cause of developmental delay in a young boy.

Report of an unusual association of hydrosyringomyelia with Gabriele-de Vries syndrome in an Asian-Indian patient.

First case of Myhre syndrome with schizophrenia.

Report of an Asian-Indian patient with Okur-Chung Syndrome and comparison of the clinical phenotype in different ethnic groups.

Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature.

Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism.