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Tibial Hemimelia OMIM

They suggested that there are 4 well-established and 2 other possible autosomal dominant tibial hemimelia syndromes in addition to 2 types with autosomal recessive inheritance. ... Limbs - Absent tibia Inheritance - Autosomal recessive - also other dominant and recessive tibial hemimelia syndromes ▲ Close

GLI3, THMA, EXT1, GLI2, PITX1, SHH, UCN2
- Absence Of Tibia GARD
  
  Absence of tibia is a rare birth defect that is characterized by deficiency of the tibia (the shinbone) with other bones of the lower leg relatively intact. The condition may affect one or both legs. Some cases are isolated birth defects, while others are associated with a variety of skeletal and other malformations. It can also be a part of a recognized syndrome such as Werner's syndrome , tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome, and CHARGE syndrome . The underlying cause is generally unknown. Although most isolated cases occur sporadically in people with no family history of the condition, absence of the tibia can rarely affect more than one family member. Treatment varies based on the severity of the condition, but generally involves surgery (i.e. amputation or reconstructive surgery with a prosthesis adapted to growth).
- Tibial Hemimelia Orphanet
  
  Genetic counseling Although the majority of cases with tibial hemimelia are sporadic, affected families with possible autosomal dominant or autosomal recessive inheritance have been reported.
Nievergelt Syndrome OMIM

Nakamura et al. (2007) suggested that the Savarirayan and Nievergelt types may be allelic autosomal dominant disorders. History Urban and Kruger (1998) suggested that Nievergelt syndrome was the correct diagnosis in 24-year-old Alice Vance from Mount Pleasant, Texas, who was among the malformed individuals presented at the world exhibition in Antwerp in 1894. ... Her mother was known to have similar malformations. INHERITANCE - Autosomal dominant GROWTH Height - Dwarfism, short limb mesomelic HEAD & NECK Face - Normal face SKELETAL Limbs - Lower leg mesomelia - Genua valga - Rhomboidal shape of tibiae and fibulae - Relative overgrowth of fibula - Radioulnar synostosis - Radial head subluxation Feet - Clubfoot - Tarsal bone synostosis - Metatarsal synostosis SKIN, NAILS, & HAIR Skin - Dimples (medial and lateral aspect of lower leg) NEUROLOGIC Central Nervous System - Normal intelligence ▲ Close

AFF3
Keloid Formation OMIM

The pattern of inheritance observed in these families was consistent with an autosomal dominant mode with incomplete clinical penetrance and variable expression. ... In addition, association with keloid was found with rs8032158 in the NEDD4 gene (602278) on chromosome 15q21.3 (p = 5.96 x 10(-13); OR, 1.51). Inheritance - Autosomal dominant Skin - Keloids ▲ Close

ASAH1, COL6A1, DDR2
- Keloid Wikipedia
  
  Keloid Bulky keloid forming at the site of abdominal surgery Pronunciation / ˈ k iː l ɔɪ d / Specialty Dermatology Keloid , also known as keloid disorder and keloidal scar , [1] is the formation of a type of scar which, depending on its maturity, is composed mainly of either type III (early) or type I (late) collagen . It is a result of an overgrowth of granulation tissue (collagen type 3) at the site of a healed skin injury which is then slowly replaced by collagen type 1. Keloids are firm, rubbery lesions or shiny, fibrous nodules , and can vary from pink to the color of the person's skin or red to dark brown in color. A keloid scar is benign and not contagious, but sometimes accompanied by severe itchiness, pain, [2] and changes in texture. In severe cases, it can affect movement of skin. Keloid scars are seen 15 times more frequently in people of sub-Saharan African descent than in people of European descent.
Congenital Dyserythropoietic Anemia Type Iii Orphanet

Three families have been reported with autosomal dominant CDA III in Sweden, America and Argentina. ... It is inherited in an autosomal dominant mode. Other sporadic CDA III-like cases have been reported with an autosomal recessive pattern of inheritance, suggesting a different genetic alteration than KIF23 associated CDA III and possibly another subtype of CDA.

KIF23, SEC23B, KLF1, C15orf41, CDAN1, CDAN3
- Anemia, Congenital Dyserythropoietic, Type Iii OMIM
  
  Inheritance The pedigree pattern in the large Swedish family with CDA reported by Bergstrom and Jacobsson (1962) established autosomal dominant inheritance. Mapping Lind et al. (1993) performed linkage studies in the large kindred originally reported by Bergstrom and Jacobsson (1962), which could be traced back to a couple born in northern Sweden in the 19th century. ... Lind et al. (1995) demonstrated close linkage of the CDAN3 locus to microsatellite markers within an 11-cM interval within 15q21-q25. Inheritance - Autosomal dominant - also two recessive forms Skin - Jaundice Misc - Increased frequency of myeloma or monoclonal gammopathy Lab - Hemosiderinuria - Grossly disorganized erythroblast nuclei - Intraerythroblastic inclusions - Highly polyploid giant mononucleate erythroblasts - Elevated levels of serum thymidine kinase Heme - Congenital dyserythropoietic anemia - Macrocytosis - Giant bone marrow multinuclear erythroblasts ▲ Close
- Congenital Dyserythropoietic Anemia Type Iii Wikipedia
  
  Congenital dyserythropoietic anemia type III Specialty Hematology Congenital dyserythropoietic anemia type III ( CDA III ) is a rare autosomal dominant disorder characterized by macrocytic anemia , bone marrow erythroid hyperplasia and giant multinucleate erythroblasts . [1] New evidence suggests that this may be passed on recessively as well.
Lutheran Null OMIM

Since it is inherited as an autosomal dominant trait, it was initially postulated to result from an inhibitor of the Lu antigen. ... INHERITANCE - Autosomal recessive HEMATOLOGY - Absence of Lutheran antigen on red blood cells - Lu(a-b-) phenotype LABORATORY ABNORMALITIES - Presence of serum anti-Lu3 antibodies MISCELLANEOUS - No phenotypic manifestations - See also autosomal dominant Lutheran-null phenotype ( 111150 ) MOLECULAR BASIS - Caused by mutation in the B-cell adhesion molecule gene (BCAM, 612773.0001 ) ▲ Close
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome OMIM

The authors suggested recessive inheritance or gonadal mosaicism for a dominant mutation. Courtens et al. (2005) reported an infant born of nonconsanguineous Moroccan parents with oligosyndactyly of the left hand, complete absence of the right fibula, bowing of the right tibia, and absence of the right fifth metatarsal and phalanges. ... Genetic analysis showed no mutation in the WNT7A gene (601570). INHERITANCE - Autosomal dominant - Isolated cases SKELETAL Limbs - Absence of the fibula - Hypoplasia of the fibula - Bowing of the tibia - Shortening of the tibia Hands - Oligosyndactyly Feet - Oligosyndactyly MISCELLANEOUS - Present at birth - Variable phenotype ▲ Close
Deafness, Autosomal Recessive 26 OMIM

Riazuddin et al. (2000) also mapped a dominant deafness modifier, designated DFNM1 (605429), that suppressed deafness in the 7 nonpenetrant individuals to a 5.6-cM region on chromosome 1q24, with a lod score of 4.31 at theta = 0.0 for D1S2815. ... Reviews Nadeau (2001) reviewed modifier genes in mice and humans, dividing the types of modification as follows: reduced penetrance, dominance modification, expressivity, and pleiotropy.

GAB1
Deafness, Autosomal Recessive 26, Modifier Of OMIM

Riazuddin et al. (2000) mapped a dominant deafness modifier, which they designated DFNM1, that suppressed deafness in the 7 nonpenetrant individuals to a 5.6-cM region on chromosome 1q24, with a lod score of 4.31 at theta = 0.0 for D1S2815. ... The authors suggested that differential regulation of SPRY2 might be the mechanism by which the METTL13 variant functions as a modifier to prevent deafness caused by mutation in the GAB1 gene. INHERITANCE - Autosomal dominant HEAD & NECK Ears - Normal hearing despite being homozygous for a deafness-causing mutation in the GAB1 gene ( 604439.0001 ) MISCELLANEOUS - Based on report of 1 large consanguineous Pakistani family (last curated June 2018) MOLECULAR BASIS - Protection conferred by mutation in the methyltransferase-like 13 gene (METTL13, 617987.0001 ) ▲ Close

EEF1AKNMT
Fatal Insomnia Wikipedia

Similar to other prion diseases, the diagnosis can only be confirmed by a brain autopsy at post-mortem. [1] Fatal insomnia has no known cure and involves progressively worsening insomnia, which leads to hallucinations, delirium, confusional states like that of dementia, and eventually death. [6] The average survival time from onset of symptoms is 18 months. [6] The first recorded case was an Italian man, who died in Venice in 1765. [7] Contents 1 Signs and symptoms 2 Cause 3 Pathophysiology 4 Diagnosis 4.1 Differential diagnosis 5 Treatments 6 Prognosis 7 Epidemiology 7.1 Silvano, 1983, Bologna, Italy 7.2 Unnamed patient of Schenkein and Montagna, 2001 7.3 Egyptian man, 2011, Netherlands 8 Research 9 Popular culture 10 References 11 External links Signs and symptoms [ edit ] The disease has four stages: [8] The person has increasing insomnia , resulting in panic attacks , paranoia , and phobias . ... In 1998, 40 families were known to carry the gene for FFI globally: eight German, five Italian, four American, two French, two Australian, two British, one Japanese, and one Austrian. [18] In the Basque Country , Spain, 16 family cases of the 178N mutation were seen between 1993 and 2005 related to two families with a common ancestor in the 18th century. [19] In 2011, another family was added to the list when researchers found the first man in the Netherlands with FFI. ... He managed to write a book and drive hundreds of miles in this time, but nonetheless, over the course of his trials, the person succumbed to the classic four-stage progression of the illness. [24] [23] Egyptian man, 2011, Netherlands [ edit ] Timeline of an FFI patient (same as the one above this one) In 2011, the first reported case in the Netherlands was of a 57 year-old man of Egyptian descent. ... The 2019 movie, Awoken , uses FFI as a major plot element. [ citation needed ] FFI is a major plot element and is described in detail in the Lewis episode "Falling Darkness". In the first episode of the 2020 TV series Next , one of the main characters confesses to have the disease and says "It's a real thing, look it up." ... W.; Capellari, S.; Rozemuller, A. J. M. (13 July 2011). "The first case of fatal familial insomnia (FFI) in the Netherlands: a patient from Egyptian descent with concurrent four repeat tau deposits".

PRNP, C4BPA, CARD14, GLS, ABCB6, PRDX2, RYR2, ZBTB38, MLKL, MPRIP, RIPK3, UQCRC2, SDHB, AQP1, RASA2, TSPO, PRL, NDUFB8, COX2, MDH1, GH1, GFAP, CSNK2A2, CHI3L1, MIR146A
- Fatal Familial Insomnia OMIM
  
  Description Fatal familial insomnia is a prion disorder showing autosomal dominant inheritance. It is clinically characterized by insomnia with or without a diurnal dreaming state, hallucinations, delirium, and dysautonomia preceding motor and cognitive deterioration. ... Spacey et al. (2004) described a family of Chinese descent in which at least 6 members spanning 4 generations were affected with autosomal dominant fatal familial insomnia. At age 36 years, the proband presented with myoclonus and refractory insomnia with somniloquism and dream enactment. ... Men and women were affected in a pattern consistent with autosomal dominant inheritance. The age at onset varied between 37 and 61 years; the course averaged 13 months, with a range of 7 to 25 months. ... The disease induced by the D177N mutant protein was distinct from scrapie, indicating that the FFI-associated mutant represents a unique strain of prion infectivity. INHERITANCE - Autosomal dominant GROWTH Weight - Weight loss HEAD & NECK Eyes - Diplopia, intermittent RESPIRATORY - Apneic episodes ABDOMEN Gastrointestinal - Dysphagia - Constipation GENITOURINARY Bladder - Urinary retention SKIN, NAILS, & HAIR Skin - Diaphoresis NEUROLOGIC Central Nervous System - Insomnia, refractory - Sleep impairment, progressive - Dysautonomia - Myoclonus - Ataxia - Dysarthria - Dream enactment - Somniloquism - Dementia - Thalamic neuronal loss, especially in the medial dorsal nucleus - Brainstem may show neuronal loss METABOLIC FEATURES - Fever MISCELLANEOUS - Onset in adulthood - Rapid course - Death within 12 months MOLECULAR BASIS - Caused by mutation in the prion protein gene (PRNP, 176640.0010 ) ▲ Close
- Fatal Familial Insomnia Orphanet
  
  Fatal familial insomnia (FFI) is a very rare form of prion disease (see this term) characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances.
- Fatal Familial Insomnia GARD
  
  Almost all cases of FFI occur due to a specific variant in the PRNP gene and are inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms, clinical exam, sleep study, and imaging studies.
Aniridia And Absent Patella OMIM

The patella was either hypoplastic or aplastic. INHERITANCE - Autosomal dominant HEAD & NECK Eyes - Aniridia - Cataracts - Glaucoma SKELETAL Limbs - Hypoplastic patella ▲ Close
- Aniridia-Absent Patella Syndrome Orphanet
  
  A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.
Ear Antitragus, Tag At Base Of OMIM

One of the families contained an instance of male-to-male transmission. Inheritance - Autosomal dominant Ears - Tag, nodule or localized elevation at base of antitragus ▲ Close
Deafness-Ear Malformation-Facial Palsy Syndrome Orphanet

It has been described in three sibs and their mother. Inheritance is autosomal dominant.
- Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy OMIM
  
  Surgery on the middle ear was partially effective. Inheritance - Autosomal dominant Neuro - Facial paralysis Ears - Conductive deafness - Stapedial abnormalities - Variable external ear malformation ▲ Close
Pseudoatrophoderma Colli OMIM

Frost and Epstein (1939) described affected sisters. Inheritance - Autosomal dominant Skin - Pseudoatrophic papillary and pigmentary dermatosis of neck ▲ Close
Anonychia With Flexural Pigmentation OMIM

Nails - Anonychia Inheritance - Autosomal dominant Skin - Axillary and groin hyperpigmentation and hypopigmentation - Dry skin of soles and palms ▲ Close
- Anonychia With Flexural Pigmentation Orphanet
  
  A rare ectodermal dysplasia syndrome characterized by anonychia congenita totalis or rudimentary nails, macular hyper- and/or hypopigmentation (particularly affecting groins, axillae and breasts), coarse scalp hair (that becomes markedly thinned in early adult life), dry palmoplantar skin with distorted epidermal ridges and sore, cracked soles, and hypohidrosis. There have been no further descriptions in the literature since 1975.
Acute Bronchitis Wikipedia

Dullness to percussion and pleural rub suggest disease extension beyond the bronchi such as seen with pneumonia. [14] [15] Paroxysms of cough followed by inspiratory whoop and vomiting suggests pertussis . [17] Prevention [ edit ] Prevention is by not smoking and avoiding other lung irritants. [5] Frequent hand washing may also be protective. [5] Furthermore, an oral whole cell nontypeable Haemophilus influenzae vaccine given in the fall has demonstrated short term effectiveness in reducing the frequency and severity of the disease during the winter. [18] Treatment [ edit ] Most cases are self-limited and resolve themselves in a few weeks. ... Foxwell, Ruth (ed.). "Haemophilus influenzae oral whole cell vaccination for preventing acute exacerbations of chronic bronchitis".

HDAC2, DNAH11, IGHG3, PERCC1
Peripheral Neuropathy Mayo Clinic

Make healthy lifestyle choices These habits support your nerve health: Eat a diet rich in fruits, vegetables, whole grains and lean protein to keep nerves healthy. ... Good nutrition is especially important to make sure that you get important vitamins and minerals. Include fruits, vegetables, whole grains and lean protein in your diet.

GJB3, PMP22, CTLA4, MYOT, LYST, ERCC1, ERCC4, ERCC3, SLC12A6, NGF, ABCB1, IL6, CYP2C8, IGF1, GFAP, RHOBTB2, TCF4, GSTP1, MYO5A, SOX8, PSMB1, CSF3, CPT1C, GJE1, DYNC1I1, NEFH, AURKA, SERPINB2, NPY, PPARD, PRKCE, CDKN2A, DPYD, UCHL1, SOD2, XK, ATF3, MKI67, IGF1R, CACNA1H, ALOX12, ICAM1, PNPLA6, TNFRSF10A, MMP3, MBL2, GAN, JUN, CACNA1B, GLI1, CASP9, ABCA1, DAPK1, ABCC1, MPZ, GJB1, TTR, HSPB1, EGR2, GARS1, APTX, KIF1B, GDAP1, PRPS1, HFE, ATXN3, MYH14, PMM2, MFF, SEPTIN9, SURF1, ND5, OPA1, ND2, HSPB3, CYTB, MYD88, RAB3GAP1, SOX10, ATP6, XPA, SPG11, SCN9A, MAG, WNK1, SCO2, TFG, INS, AARS1, HADHA, RETREG1, RNF113A, ND6, NDUFA4, NDUFA2, ADA2, TRNK, RAB18, SMC1A, INPP5K, SUCLA2, NAGA, NDUFAF3, PNKP, ND4L, LDB3, SLC30A10, ACER3, SETD5, MARS1, KIF1C, AP5Z1, KMT2A, SCN11A, SGPL1, SNAP29, SMC3, AGPAT2, COX3, ND1, NDUFA10, ND4, NDUFA9, NDUFS3, NDUFB8, PPARG, PEX7, PDSS1, AMACR, SMPD1, RAB3GAP2, PHYH, IARS2, SDHA, TXN2, SCP2, NDUFS1, PPOX, PRKAR1A, SCN10A, DNAJC3, NIPBL, ATXN8OS, OSTM1, BSCL2, PEX5, PDHA1, PDE4D, NDUFA13, ABCC8, NDUFS2, RAD21, NDUFV1, XPC, NDUFS4, NDUFS8, WFS1, NDUFV2, WIPF1, NF2, WAS, TPI1, ZFR, TNFRSF1B, LIPT1, VPS13A, NOTCH2, TIMMDC1, TACO1, FOXRED1, COX1, HLA-DRB1, TMPRSS6, HK1, COX15, CPOX, SLC5A7, TTBK2, NDUFAF6, HADH, HADHB, GTF2E2, MPLKIP, SIL1, TBC1D20, MTFMT, CYP27A1, GNGT1, GCLC, NDUFAF5, FA2H, DDB2, SLC52A3, SLC46A1, ECHS1, GCK, NDUFAF2, ERCC2, ERCC5, ERCC6, PHF6, FOS, HSD3B7, SLC19A3, CAVIN1, HDAC8, AR, NDUFA12, ATP5F1E, PDX1, INSR, KIF1A, ATXN8, AGXT, BTNL2, CISD2, KCNJ11, CA2, CAPN1, CAV1, TBC1D24, GTF2H5, NDUFS7, CD28, PET100, AP1S1, MFN2, AIFM1, HDAC6, TNF, CEP72, DNM2, TRPV4, PRNP, FIG4, ATXN2, RNMT, BDNF, TRPV1, SARM1, SACS, SPTLC1, MTM1, HMGB1, NEFL, LY6E, NFE2L2, HSPB8, PLP1, VEGFA, YARS1, MTMR2, HARS1, APOE, CYP3A5, EGFR, POLG, GPT, SIGMAR1, GABPA, SBF2, FXN, PIK3CG, SOD1, NRG1, LMNA, MAPK14, TRPA1, CSF2, HINT1, SLC22A4, ST3GAL4, AKR1A1, AIRE, ITIH4, IL10, LITAF, MMP9, NFASC, IFNG, PRX, MPV17, IGFALS, CNTNAP1, NDRG1, KMT2D, CAV3, SETX, RAB7A, AKR1B1, ZBTB17, SH3TC2, ACTG1, MAPK1, AFP, PIK3CA, NGFR, PRKCB, GFER, NAMPT, PRKCA, PRRT2, PIK3CB, KIF5A, TYMP, ACE, ARHGEF10, REN, REEP1, NOS1, S100B, PIK3CD, LAMC2, PMP2, FGD4, NMNAT2, C20orf181, MIR29A, PNPLA2, RPIA, IMMT, AHSA1, POLE4, ANO10, D2HGDH, SPG36, SEPTIN3, RAI1, HPSE, POTEM, ZGLP1, POTEKP, MIR381, MEG3, ACOT7, AVIL, MIR146A, CHSY1, SLC47A1, NAA50, SLURP1, CD274, PART1, PINK1, RNF19A, POLDIP2, KIFBP, FGF21, NLRP2, CYP2U1, DCPS, DBNL, STEAP4, SCYL1, SCA18, C12orf65, SLC25A46, DGAT2, ICOS, PTRH2, EHMT1, DHH, ATL1, TUBB1, EBF2, NIPA1, TCHHL1, INF2, SLC12A5, EP400, GSTK1, KRT20, ACTBL2, GLDN, LAMA1, MCF2L2, POLD4, COPD, AGTPBP1, EPGN, CRBN, NEDD4L, HARS2, TREM2, NRG4, BACE1, VSIR, SLCO6A1, FBXO7, TRIM2, SERPINA3, FBLN5, FOLR1, GLA, GHSR, GFRA1, GDNF, GCG, GAS1, GAP43, FMR1, PRLHR, FGF14, PTK2B, FAAH, F2RL1, EPO, EPHB2, ENO2, GLP1R, GPX1, EMP1, IL1B, CXCR2, CXCR1, CXCL8, IL6ST, IL4, IL2, IL1RN, IGHMBP2, GRIN1, IFRD1, HSPB2, HMBS, HGF, GSTT1, GSK3B, CXCL1, CTTN, EGF, SEMA4D, ARSA, MS4A1, CD1D, CCNH, CAPG, BMP7, BCHE, BBS2, FAS, TNFRSF8, ANK1, ALOX15, ABCD1, ALB, AGRP, ACTG2, ACTB, CD86, CD59, DLG4, CTNNB1, DES, DDIT3, DAG1, CYP17A1, CYP3A4, CX3CR1, CTSS, CCN2, LTB4R, CST3, CSF1R, CRP, CRK, CNTF, CNR2, CMTX3, KARS1, KDR, LAMA2, SPR, TP53, THBD, THAS, TGFB1, TCN2, TACR1, STK11, SPAST, VCP, SOX4, FSCN1, SLC22A5, CCL4, CCL2, SCN4A, SCN2A, TYMS, AIMP2, LDLR, SPTLC2, TUBB3, LRPPRC, TSFM, DCLRE1A, LRIG2, ABCG1, MAD2L1BP, FHL5, CUL4B, GRAP2, ARTN, EIF2B5, NR1I2, RAB11A, CST7, ELP1, ATXN7, ATXN1, SBF1, MAPT, NCAM1, NAIP, NAB2, NAB1, MTR, MTHFR, MPO, MAP6, RIEG2, MAP4, MAP1B, SMAD3, LYZ, LRP1, LIF, LEP, NM, NOS2, NOTCH1, NTRK1, RET, RARRES2, PXMP2, PTPN13, PTK2, PTEN, PRTN3, PRPH, ABCB4, PGR, SERPINF1, PDK3, PCBP1, PRKN, P2RX3, H3P5
Food Poisoning Mayo Clinic

Use a meat thermometer to make sure meat is cooked enough. Cook whole meats and fish to at least 145 F (63 C) and let rest for at least three minutes. Cook ground meat to at least 160 F (71 C). Cook whole and ground poultry to at least 165 F (74 C).

HP
Catatrichy OMIM

Hair - Fine wavy forelock Inheritance - Autosomal dominant ▲ Close

SOX10
Pulmonary Atresia With Ventricular Septal Defect OMIM

They could find no previous report of familial occurrence and favored a multifactorial basis. INHERITANCE - Autosomal dominant CARDIOVASCULAR Heart - Ventricular septal defect RESPIRATORY Lung - Pulmonary atresia ▲ Close

FLT4, PPP4C, TBX6
- Pulmonary Atresia With Ventricular Septal Defect Orphanet
  
  Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot (see this term).
Lunulae Of Fingernails OMIM

Nails - Fingernail lunulae size Inheritance - Autosomal dominant ▲ Close