[…] maturation Microphthalmia Myopia Intrauterine growth retardation Neoplasm High hypermetropia Hyperphosphatemia Obesity Stenosis of the medullary cavity of the long bones Thrombocytopenia Abnormality of metabolism/homeostasis Intellectual disability, mild Splenomegaly [mendelian.co]

respiratory infections Cataract Infertility Basal ganglia calcification High pitched voice Hypoparathyroidism Delayed cranial suture closure Hypocalcemia Increased bone mineral density Small nail High myopia Decreased testicular size Neutropenia Papilledema [mendelian.co]

autosomal recessive, type 66 (DFNB-66) 610212 0 0 DCDC2 - - 00088 DIAR-1 diarrhea, type 1, chloride, secretory, congenital (Finnish type, DIAR-1) 214700 69 2 SLC26A3 - - 00072 DTD dysplasia, diastrophic (DTD) 222600 0 0 SLC26A2 - - 00546 DYT-9 dystonia [databases.lovd.nl]

Leukocytosis Increased antibody level in blood Tibial bowing Cellulitis Hydrops fetalis Behavioral abnormality Thoracic dysplasia Decreased small intestinal mucosa lactase activity Lactose intolerance Fructose intolerance Atherosclerosis Metabolic acidosis Diarrhea [mendelian.co]

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, SOX % 99% Microphthalmia syndromic 3, Optic nerve hypoplasia and abnormalities of the central nervous system, SP % 100% Osteogenesis imperfecta type XII,613849 30 SPINK % 99% Atopy, Netherton syndrome, SPINT % 60% Diarrhea [docplayer.net]

2,615777 APC Desmoid disease,hereditary,135290 ENPP1 Diabetes mellitus, non-insulin-dependent, susceptibility to,125853 INSR Diabetes mellitus,insulin-resistant,with acanthosis nigricans,610549 FOXP3 Diabetes mellitus,type I,susceptibility to,222100 SPINT2 Diarrhea [gsdseq.ir]

[…] nostrils Disproportionate tall stature Keratoconjunctivitis Overlapping toe Conical incisor Opisthotonus Keratitis Full cheeks Phimosis Radial deviation of finger Adducted thumb Nasal speech Elbow flexion contracture Recurrent urinary tract infections Cyanosis [mendelian.co]

Genetic Heterogeneity of Ehlers-Danlos Syndrome, Periodontal TypeEhlers-Danlos syndrome periodontal type 2 ( EDSPD2 ) is caused by mutation in the C1S gene ( OMIM ) on chromosome 12p13. [mendelian.co]

Without effective enamel, your teeth are prone to damage and breakage, as well as gum disease ( gingivitis or periodontitis ) and tooth decay. People with the condition will have to practice stringent oral hygiene. [healthline.com]

質形成不全症 ICD-11 による疾患分類 [BR: jp08403 ] 20 Developmental anomalies Structural developmental anomalies primarily affecting one body system Structural developmental anomalies of the face, mouth or teeth LA30 Structural developmental anomalies of teeth and periodontal [genome.jp]

CSTA % 100% Exfoliative ichthyosis,autosomal recessive,ichthyosis bullosa of Siemens-like, CTC % 99% Cerebroretinal microangiopathy with calcifications and cysts, CTSA % 100% Galactosialidosis, CTSC % 98% Haim-Munk syndrome, Papillon-Lefevre syndrome, Periodontitis [docplayer.net]

[…] somatic,300818 CAV1 Partial lipodystrophy, congenital cataracts and neurodegeneration syndrome,606721 SOX10 PCWH syndrome,609136 CDSN Peeling skin syndrome 1,270300 TGM5 Peeling skin syndrome acral type,609796 TNFRSF1A Periodic fever,familial,142680 CTSC Periodontitis [gsdseq.ir]

caries, periodontal disease, and oral infections. [mendelian.co]

In affected individuals, the misdiagnosis is often made of the more prevalent disorder Sjogren syndrome ( OMIM ), an autoimmune condition characterized by keratoconjunctivitis sicca and xerostomia. [mendelian.co]

Periosteal thickening of long tubular bones Anasarca Advanced pneumatization of the mastoid process Growth delay Conductive hearing impairment Depressed nasal ridge Bilateral single transverse palmar creases Generalized hirsutism Low anterior hairline Skin [mendelian.co]

lentis and with or without secondary glaucoma, 251750 (3) Weill-Marchesani syndrome 3, recessive, 614819 (3) MLH3 Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3) Colorectal cancer, somatic, 114500 (3) {Endometrial cancer, susceptibility [mendel.medicina.ufmg.br]

fullness Hypertonia Recurrent corneal erosions Hypoplasia of the corpus callosum Finger clinodactyly Abnormality of digit Radial deviation of the 3rd finger Mitral valve prolapse Episodic fever Reduced consciousness/confusion Periorbital edema Pneumothorax [mendelian.co]

Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., [mendelian.co]

Teenagers in particular may become withdrawn due to the pressure to fit in among their peers. At the moment, there is no standard treatment for amelogenesis imperfecta. Treatment depends on the type and severity of the condition. [healthline.com]

speech and language development and Ophthalmoplegia, related diseases and genetic alterations [mendelian.co]

7 BRAF, CASP8, CYP2A6, DLEC1, EGFR, ERBB2, ERCC6, FASLG, IRF1, KRAS, MAP3K8, PARK2, PIK3CA, PPP2R1B, RASSF1, SLC22A18 - - 04121 AI2A-5 amelogenesis imperfecta, hypomaturation type, IIA5 (AI2A-5) 615887 0 0 SLC24A4 - - 05212 AMDME ataxia, myoclonia, dysarthria [databases.lovd.nl]