[…] a Polish Turkish a Turkish a Turkish a Turkish a Laboratory findings Elevated liver enzymes NA Abnormal coagulation NA NA Decreased AT3/Proteins C and S NA NA Microcytic anemia NA Type I TIEF pattern Normal LLO analysis b Genetic findings Mutation c.286 [academic.oup.com]

Clinical features Utine et al. (2013) reported 3 boys from a consanguineous Turkish kindred with cerebellar ataxia. The 8-year-old proband was described in detail. [findzebra.com]

Both of the previously reported Turkish patients with p.W19X were initially diagnosed with CDG-x [ 12, 13 ] but later shown to have SRD5A3 mutation [ 4 ]. [bmcmedgenet.biomedcentral.com]

The researchers in Göttingen investigated a Turkish family with two cousins who manifested developmental delay, mild intellectual disability, pronounced primary microcephaly and short stature and were clinically diagnosed with a Bloom syndrome-like disorder [humangenetik-umg.de]

All patients had delayed psychomotor development with hypotonia, truncal and appendicular ataxia, and difficulty walking; 1 patient was wheelchair-bound at age 14 years. All patients also showed occasional or persistent tonic upgaze and nystagmus. [findzebra.com]

Urine Blockage : When a defect in the urinary tract blocks the flow of urine, the urine backs up and causes the ureters to swell, called hydroureter, and hydronephrosis. [familydiagnosis.com]

Morava E, Guillard M, Lefeber DJ, Wevers RA : Autosomal recessive cutis laxa syndrome revisited. Eur J Hum Genet 2009; 17 : 1099–1110. [nature.com]

Keywords Galactosemia Cutis Laxa Conserve Oligomeric Golgi Hepatic Vein Thrombosis Congenital Dyserythropoietic Anemia These keywords were added by machine and not by the authors. [sfx.gbv.de]

Laxa, Autosomal Recessive, Type IIA Cutis Laxa, Autosomal Recessive, Type IIB Cutis Laxa, Autosomal Recessive, Type IIIA Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblasticanemia, [familydiagnosis.com]

laxa, Debré type [ ] Autosomal recessive cutis laxa, pulmonary emphysema type [ ] Autosomal recessive cutis laxa type 1 [ ] Autosomal recessive cutis laxa type 2 [ ] Autosomal recessive cutis laxa with severe systemic involvement [ ] Autosomal recessive [wikicure.fandom.com]

lesions, abnormal coagulation, and psychomotor retardation, bearing in mind that a normal TIEF pattern does not exclude the diagnosis. [bmcmedgenet.biomedcentral.com]

Septo-optic dysplasia in combination with a pigmented skin lesion: a case report with nosological discussion. Eur J Paediatr Neurol 2000;4:189–93. PubMed Crossref Google Scholar 33. Anderson ML. [degruyter.com]

Ichthyosiform skin lesions may support the clinical suspicion. Funding Financial support by the European Commission sixth framework program is gratefully acknowledged (Euroglycanet grant LSHM-CT2005-512131). [academic.oup.com]

Muscle hypotonia developed at the age of 5 months, and severe mental delay, visual impairment, optic atrophy, nystagmus, cerebellar ataxia, and recurrent episodes of reduced activity followed [ 12 ]. [bmcmedgenet.biomedcentral.com]

All patients presented with early clinical symptoms, mostly muscle hypotonia and visual problems in the first 6 months of life. Several had a severe delay in early motor development. [academic.oup.com]

hypotonia, intellectual disability, and cerebellar ataxia. 3, 4 Biochemically, SRD5A3-CDG is characterized by a transferrin isoelectric focusing pattern that is typical of CDG-I. 5 Defective glycan synthesis results in altered sialotransferrin forms, [jamanetwork.com]

It was suggested that cataracts could develop later in patients with SRD5A3-CDG, if not already present at infancy [ 4 ]. [bmcmedgenet.biomedcentral.com]

[…] next-generation sequencing in three affected siblings showing mental retardation, cataract, coloboma, dysmorphic features and kyphosis, Kahrizi et al. 1 reported a novel mutation in the recently discovered 5α-reductase type 3 ( SRD5A3 ) gene. 2 The authors suggest [nature.com]

This latter series of patients suggests that a gene/genes affecting anterior segment embryogenesis reside at the 22q11.2 locus. [molvis.org]

We suggest that these children have a new autosomal recessive syndrome of ocular colobomas and ichthyosis. 2008 Wiley‐Liss, Inc. [onlinelibrary.wiley.com]

Case presentation We present 2 brothers at the age of 38 and 40 years with an initial diagnosis of cerebellar ataxia. [bmcmedgenet.biomedcentral.com]

Vermeer S, Kremer HP, Leijten QH et al : Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening. J Neurol 2007; 254 : 1356–1358. 7. [nature.com]

Clinical features Lise et al. (2012) reported a consanguineous Pakistani family in which 3 individuals had early-onset cerebellar ataxia and cognitive impairment. [findzebra.com]

ataxia type 1 [ ] Autosomal dominant cerebellar ataxia type 3 [ ] Autosomal dominant cerebellar ataxia type 4 [ ] Autosomal dominant cerebellar ataxia type I [ ] Autosomal dominant cerebellar ataxia type III [ ] Autosomal dominant cerebellar ataxia type [wikicure.fandom.com]

Physical examination showed poor overall growth, rotatory nystagmus, truncal ataxia, oculomotor apraxia, pale optic disc, dysmetria, and dysdiadochokinesis. [findzebra.com]

Recent examinations of both patients revealed ataxic gait, dysmetria, dysdiadochokinesia, and scanning speech. Muscle tonus was normal, deep tendon reflexes were increased, and Achilles clonus was present. No pathologic reflex was observed. [bmcmedgenet.biomedcentral.com]

Acidosis Congenital onset Rare Symptoms - Less than 30% cases Dehydration Short stature Muscular hypotonia Motor delay Partial agenesis of the corpus callosum Hypoplasia of the corpus callosum Colpocephaly Cavum septum pellucidum Hyperreflexia Nystagmus Dysmetria [mendelian.co]

By age 4 years, he had ataxia with gross and fine motor delay, oculomotor apraxia, dystonic movements of the face, hands, and feet, and hyperreflexia. [findzebra.com]

[…] myelinated nerve fibers Corpus callosum atrophy Urinary bladder sphincter dysfunction Overweight Abnormality of the periventricular white matter Impaired vibration sensation in the lower limbs Axonal loss Ankle clonus Macular degeneration Lower limb hyperreflexia [mendelian.co]

[…] pyramidal sign Decreased number of peripheral myelinated nerve fibers Corpus callosum atrophy Urinary bladder sphincter dysfunction Overweight Abnormality of the periventricular white matter Impaired vibration sensation in the lower limbs Axonal loss Ankle clonus [mendelian.co]

Muscle tonus was normal, deep tendon reflexes were increased, and Achilles clonus was present. No pathologic reflex was observed. Cranial nerves were intact. The mental performance of the younger patient seemed much better. [bmcmedgenet.biomedcentral.com]

Clinical data The affected brothers were 38 and 40 years old and had complaints of abnormal gait and visual impairment, and the initial diagnosis five years ago was diagnosed with cerebellar ataxia. [bmcmedgenet.biomedcentral.com]

Intellectual disabilities, syncope, hypoglycemia, seizures, apneic episodes, mood anomalies, abnormal gait, and general clumsiness may be present. There was considerable clinical variation among the six reported patients. [disorders.eyes.arizona.edu]