Other fertility related chapters include the evaluation of the infertile woman, ovulation induction, recurrent pregnancy loss, and age-related infertility. Finally, a transition to premature ovarian insufficiency and menopause will be provided. [books.google.de]

Posted in: Medical Science News Medical Research News Women's Health News Tags: Deafness, Doctor, Gene, Genes, Genetic, Genetics, Hearing Loss, Hormone, Hospital, Infertility, Medicine, Mitochondria, Nerve, Next Generation, Research, Walking [news-medical.net]

Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. [malacards.org]

Parkinsonism Synonym(s): - XX gonodal dysgenesis - deafness Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility [csbg.cnb.csic.es]

The patient had poorly developed breasts (Tanner stage 2), sparse pubic and axillary hair (Tanner stage 2). She had normal external genitalia. Her vitals were normal. [docksci.com]

[…] body height Small stature [ more ] 0004322 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 Showing of 22 Last updated: 5/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have [rarediseases.info.nih.gov]

Fragile X Syndrome August 28, 2018 by Peter Ciszewski Fragile X Syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. [checkrare.com]

The analysis studied the occurrence of voice and resonance disorders in general, the occurrence in different etiological subtypes of syndromes and the association with other disorders, in particular clefting, a cognitive impairment and hearing problems [karger.com]

Application study of quick cognitive screening test in identifying mild cognitive impairment. Neurosci Bull. 2010;26(1):47–54. [bmcmedgenet.biomedcentral.com]

impairment Aplasia/hypoplasia of the extremities Epileptic spasms Pes cavus Epileptic encephalopathy Hypsarrhythmia X-linked dominant inheritance Delayed myelination Coarse facial features Cerebral atrophy Arrhythmia Infantile onset Areflexia Mental [mendelian.co]

impairment, Epileptic encephalopathy, early infantile SCN9A Paroxysmal extreme pain disorder SERPINI1 Encephalopathy, familial, with neuroserpin inclusion bodies SIK1 Epileptic encephalopathy, early infantile SLC2A1 Epilepsy, idiopathic generalized, [genda.com.ar]

[…] malformation Cardiofaciocutaneous syndrome Carotid-Cavernous Fistula Cat-scratch disease Cataract-glaucoma Celiac disease, epilepsy and cerebral calcification syndrome Central areolar choroidal dystrophy Central precocious puberty Cerebellar ataxia - areflexia [sanfordresearch.org]

[…] palate Cognitive impairment Aplasia/hypoplasia of the extremities Epileptic spasms Pes cavus Epileptic encephalopathy Hypsarrhythmia X-linked dominant inheritance Delayed myelination Coarse facial features Cerebral atrophy Arrhythmia Infantile onset Areflexia [mendelian.co]

NOL3 Myoglobinuria acute recurrent LPIN1 Myopathy due to Integrin 7A deficiency ITGA7 Myopathy due to myoadenylate deaminase deficiency AMPD1 Myopathy with fiber-type disproportion SELENON Myopathy with fiber-type disproportion type 1 ACTA1 Myopathy, areflexia [centogene.com]

ataxia Inability to coordinate movements when walking 0002066 Gonadal dysgenesis 0000133 High palate Elevated palate Increased palatal height [ more ] 0000218 Increased circulating gonadotropin level Elevated gonadotropins Elevated serum gonadotropins [rarediseases.info.nih.gov]

ataxia and tremor in older males;pre mutation in FMR1 causes the gene to make abnormallyincreased amounts of messenger RNA. [yumpu.com]

ataxia Milia Retinal atrophy Ptosis Peripheral neuropathy Hypoplasia of the corpus callosum Thick eyebrow Open mouth Hyporeflexia Feeding difficulties Thick vermilion border Osteoporosis Spasticity Abnormality of the nervous system Delayed puberty Nephrotic [mendelian.co]

Perrault syndrome is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations. 0100543 Dysarthria Difficulty articulating speech 0001260 Hyporeflexia Decreased reflex response Decreased reflexes [rarediseases.info.nih.gov]