2-5 finger syndactyly
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
4-5 finger syndactyly
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Abnormality of the occipital bone
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Abnormality of the periventricular white matter
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Agenesis of corpus callosum
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Arachnoid Cysts
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Asthma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The impact of amino acid alterations in PACRG and RTTN proteins, and possible association of the sequence variants with asthma, is of uncertain significance, but their role in ciliary function may be of future interest.
|
30324028 |
2018 |
Attenuation of retinal blood vessels
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Bilateral microphthalmos
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Brachydactyly
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Herein, we report on a consanguineous family with three adult members, age 43, 57, and 60 years respectively, with primary microcephaly, developmental delay, primordial dwarfism, and brachydactyly segregating a homozygous splice site variant NM_173630.3:c.5648-5T>A in RTTN.
|
30927481 |
2019 |
Cerebellar atrophy
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Cerebral atrophy
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Cerebral ventriculomegaly
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Congenital Abnormality
|
0.060 |
GeneticVariation
|
group |
BEFREE |
RTTN mutations therefore link aberrant ciliary function to abnormal development and organization of the cortex in human individuals.
|
22939636 |
2012 |
Congenital Abnormality
|
0.060 |
GeneticVariation
|
group |
BEFREE |
Autosomal recessive missense Rotatin (RTTN) mutations are responsible for syndromic forms of malformation of cortical development, ranging from isolated polymicrogyria to microcephaly associated with primordial dwarfism and other major malformations.
|
30121372 |
2018 |
Congenital Abnormality
|
0.060 |
GeneticVariation
|
group |
BEFREE |
RTTN mutations have previously shown to link aberrant ciliary function with abnormal development and organization of the human cerebral cortex.
|
29883675 |
2018 |
Congenital Abnormality
|
0.060 |
Biomarker
|
group |
BEFREE |
However, the function of rotatin in brain development is largely unknown and the molecular disease mechanism underlying cortical malformations has not yet been elucidated.
|
30879067 |
2019 |
Congenital Abnormality
|
0.060 |
GeneticVariation
|
group |
BEFREE |
A targeted exome sequencing of morbid genes causing cerebral malformations identified novel RTTN compound heterozygous mutations in a family where three pregnancies were terminated because a severe fetal microcephaly was diagnosed.
|
29356416 |
2018 |
Congenital Abnormality
|
0.060 |
GeneticVariation
|
group |
BEFREE |
Biallelic and pathogenic variants in the RTTN gene, encoding the centrosomal protein Rotatin, are associated with variable degrees of neurodevelopmental abnormalities, microcephaly, and extracranial malformations.
|
30927481 |
2019 |
Congenital anomaly of brain
|
0.030 |
GeneticVariation
|
group |
BEFREE |
With time, a wide variety of other brain malformations has been ascribed to RTTN mutations, including primary microcephaly.
|
30879067 |
2019 |
Congenital anomaly of brain
|
0.030 |
GeneticVariation
|
group |
BEFREE |
Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.
|
29883675 |
2018 |
Congenital anomaly of brain
|
0.030 |
GeneticVariation
|
group |
BEFREE |
We found a novel homozygous mutation in RTTN associated with microcephalic PD as well as complex brain malformations and congenital dermatitis, thus expanding the phenotypic spectrum of both RTTN-associated diseases and ciliary dysfunction.
|
26940245 |
2016 |
Congenital microcephaly
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Cortical Dysplasia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Cortical gyral simplification
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|