ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS, AND LYMPHEDEMA; OLEDAID Is also known as ;ol-eda-id Related symptoms: Edema Fever Pneumonia Immunodeficiency Recurrent infections SOURCES: MONDO UMLS SCTID MESH OMIM ORPHANET More [mendelian.co]

704 Pemphigus vulgaris 18.0 P * 705 Pendred syndrome 7.0 P * 49 Penile agenesis 80 Cases 313936 PENS syndrome 13 Cases 1335 Pentalogy of Cantrell 0.67 BP 2847 Pericardial and diaphragmatic defect 20 Cases 65250 Perineural cyst 50.0 I * 436166 Periodic fever-infantile [azkurs.org]

Read More FAYELYNNSMOMMA premature-and-teething 200124 well lately fayelyn has had the following: excessive drool and saliva ; causing a rash on her chin irritability not eating crying till she turns purple low grade fever, norm is 97.5-97.9, but has [inspire.com]

[…] with amyloidosis TNFRSF1A Periodic fever, autosomal dominant TNFRSF1A Periodic fever with AA amyloidosis TNFRSF1A Juvenile idiopathic arthritis TNFRSF1A Systemic lupus erythematosus TNFRSF1A Cardiomyopathy, dilated TNNC1 Cardiomyopathy, hypertrophic [springer.com]

[…] followed by regression, deafness, blindness, vomiting, hyperirritability, hypersensitivity to stimuli, increased deep-tendon reflex, and spasticity; seizures; diffuse cerebral atrophy and demyelination; elevated CSF protein; peripheral neuropathy; episodic fever [merckmanuals.com]

Women with low levels of estrogen have an increased risk of developing weak and brittle bones (osteoporosis), which are more likely to break than healthy bones. Depression or anxiety. [mayoclinic.org]

Sclerotic vertebral endplates Short long bone Gait disturbance Kyphosis Craniofacial osteosclerosis Severe short stature Kyphoscoliosis Pain Camptodactyly of finger Difficulty walking Platyspondyly Waddling gait Osteoarthritis Facial hyperostosis Muscle weakness [mendelian.co]

[…] retinitis pigmentosa, pericardial effusion, cardiomyopathy, hepatomegaly, vomiting, diarrhea, liver fibrosis, primary ovarian failure, renal cysts, nephrosis, proximal tubulopathy, kyphosis, joint contractures, ectopic fat pads, orange-peel skin, muscle weakness [merckmanuals.com]

[…] atypical LMNA Muscular dystrophy, Emery-Dreifuss, neurogenic LMNA Muscular dystrophy & peripheral neuropathy LMNA Seip syndrome LMNA Cardiomyopathy, dilated LMNA Apical left ventricular aneurysm LMNA Lipodystrophy and insulin-resistance LMNA Muscle weakness [springer.com]

(ACS I) (Apert-Crouzon syndrome, included) (Acrocephalosyndactyly, type II, included) (ACS II, included) (Vogt cephalodactyly, included) 13 101400 Saethre-Chotzen syndrome (SCS) (Acrocephalosyndactyly, type III; ACS3) (ACS III) (Chotzen syndrome) (Acrocephaly [becomerich.lab.u-ryukyu.ac.jp]

TMC8) Epidermolysis bullosa dystrophica, AD ( COL7A1) Epidermolysis bullosa dystrophica, AR ( COL7A1) Epidermolysis bullosa of hands and feet ( ITGB4) Epidermolysis bullosa pruriginosa ( COL7A1) Epidermolysis bullosa simplex with migratory circinate erythema [en.praenatal-medizin.de]

quadriplegia syndrome Congenital ichthyosis-microcephalus-tetraplegia syndrome Congenital non-bullous ichthyosiform erythroderma Congenital reticular ichthyosiform erythroderma Erythrokeratodermia variabilis Exfoliative ichthyosis Generalized peeling [se-atlas.de]

quadriplegia, vacuolated lymphocytes Most patients from Italy or southwestern US Treatment: Supportive care, consideration of bone marrow or stem cell transplantation Aspartylglucosaminuria (208400) N -Aspartylglucosaminidase AGA (4q32-q33)* Onset: 2 [merckmanuals.com]

quadriplegia, and mental retardation; IFAP syndrome with or without Bresheck syndrome; CHIME; CHILD; Cutis laxa; Beare-Stevenson cutis gyrata syndrom NGS of 11 gene panel: ALDH18A1, CYP27A1, DKC1, ELOVL4, FGFR2, MBTPS2, NSDHL, PIGL, PORCN, PYCR1, VCX3A [pentacorelab.hu]