Leukemia, and Micrognathia

Diseases related with Leukemia and Micrognathia

In the following list you will find some of the most common rare diseases related to Leukemia and Micrognathia that can help you solving undiagnosed cases.

Top matches:

Low match WAGR SYNDROME

WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.

WAGR SYNDROME Is also known as del(11)(p13)|chromosome 11p13 deletion syndrome|wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome|monosomy 11p13|deletion 11p13|wagr syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about WAGR SYNDROME

Low match LIG4 SYNDROME

LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

LIG4 SYNDROME Is also known as dna ligase iv deficiency|ligase 4 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIG4 SYNDROME

Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type|congenital pure red cell aplasia|aase-smith syndrome ii|congenital prca|aase-smith ii syndrome|aase syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLACKFAN-DIAMOND ANEMIA

Other less relevant matches:

Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Low match BLOOM SYNDROME

Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, {133780}).Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016).Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see {251270}).See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.

MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR Is also known as lymphedema, microcephaly, chorioretinopathy syndrome|cdmmr syndrome|mlcrd syndrome|lymphedema and retinal folds with microcephaly and microphthalmos|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|microcephaly, ly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). Genetic Heterogeneity of Diamond-Blackfan AnemiaA locus for DBA (DBA2 ) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 (OMIM ), caused by mutation in the RPS24 gene (OMIM ) on 10q22; DBA4 (OMIM ), caused by mutation in the RPS17 gene (OMIM ) on 15q; DBA5 (OMIM ), caused by mutation in the RPL35A gene (OMIM ) on 3q29; DBA6 (OMIM ), caused by mutation in the RPL5 gene (OMIM ) on 1p22.1; DBA7 (OMIM ), caused by mutation in the RPL11 gene (OMIM ) on 1p36; DBA8 (OMIM ), caused by mutation in the RPS7 gene (OMIM ) on 2p25; DBA9 (OMIM ), caused by mutation in the RPS10 gene (OMIM ) on 6p; DBA10 (OMIM ), caused by mutation in the RPS26 (OMIM ) gene on 12q; DBA11 (OMIM ), caused by mutation in the RPL26 gene (OMIM ) on 17p13; DBA12 (OMIM ), caused by mutation in the RPL15 gene (OMIM ) on 3p24; DBA13 (OMIM ), caused by mutation in the RPS29 gene (OMIM ) on 14q; DBA14 (OMIM ), caused by mutation in the TSR2 gene (OMIM ) on Xp11; DBA15 (OMIM ), caused by mutation in the RPS28 gene (OMIM ) on 19p13; DBA16 (OMIM ), caused by mutation in the RPL27 gene (OMIM ) on chromosome 17q21; and DBA17 (OMIM ), caused by mutation in the RPS27 gene (OMIM ) on chromosome 1q21.Boria et al. (2010) reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.Gazda et al. (2012) completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. Gazda et al. (2012) stated that in total these mutations account for approximately 54% of all DBA patients.In a study of 98 Japanese patients with DBA, Wang et al. (2015) detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.

DIAMOND-BLACKFAN ANEMIA 1; DBA1 Is also known as red cell aplasia, pure, hereditary|anemia, congenital erythroid hypoplastic|dba|blackfan-diamond syndrome|anemia, congenital hypoplastic, of blackfan and diamond|bds|erythrogenesis imperfecta|aase-smith syndrome ii|aregenerative anemia, chronic congenital

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 1; DBA1

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997). Genetic Heterogeneity of Seckel SyndromeOther forms of Seckel syndrome include SCKL2 (OMIM ), caused by mutation in the RBBP8 gene (OMIM ) on chromosome 18q11; SCKL4 (OMIM ), caused by mutation in the CENPJ gene (OMIM ) on chromosome 13q12; SCKL5 (OMIM ), caused by mutation in the CEP152 gene (OMIM ) on chromosome 15q21; SCKL6 (OMIM ), caused by mutation in the CEP63 gene (OMIM ) on chromosome 3q22; SCKL7 (OMIM ), caused by mutation in the NIN gene (OMIM ) on chromosome 14q22; SCKL8 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q21; SCKL9 (OMIM ), caused by mutation in the TRAIP gene (OMIM ) on chromosome 3p21; and SCKL10 (OMIM ), caused by mutation in the NSMCE2 gene (OMIM ) on chromosome 8q24.The report of a Seckel syndrome locus on chromosome 14q, designated SCKL3, by Kilinc et al. (2003) was found to be in error; see HISTORY.

SECKEL SYNDROME 1; SCKL1 Is also known as bird-headed dwarfism|nanocephalic dwarfism|sckl|microcephalic primordial dwarfism i|seckel-type dwarfism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 1; SCKL1

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

CUTIS MARMORATA TELANGIECTATICA CONGENITA Is also known as megalencephaly-cutis marmorata telangiectatica congenita|cmtc|mcmtc|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita|mcm|macrocephaly-capillary malformation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CUTIS MARMORATA TELANGIECTATICA CONGENITA

Top 5 symptoms//phenotypes associated to Leukemia and Micrognathia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intrauterine growth retardation Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Leukemia and Micrognathia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Neoplasm

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Upslanted palpebral fissure Acute leukemia Cleft palate Cryptorchidism Retrognathia Hypertelorism Epicanthus Seizures Lymphoma Downslanted palpebral fissures Telangiectasia Myelodysplasia Postnatal growth retardation Depressed nasal bridge Immunodeficiency Failure to thrive Anemia Hypospadias Ventricular septal defect Wide nasal bridge Prominent nose Short nose Thrombocytopenia Generalized hypotonia Clinodactyly of the 5th finger Low-set ears Pancytopenia Severe short stature Atrial septal defect Cutaneous photosensitivity Small for gestational age Short neck Combined immunodeficiency Cleft upper lip Abnormality of chromosome stability Telangiectasia of the skin Abnormality of the nervous system Sloping forehead Cataract Acute lymphoblastic leukemia Acute myeloid leukemia Microphthalmia Glaucoma Edema Myeloid leukemia Nephroblastoma Nystagmus Scoliosis Hyperactivity

Rare Symptoms - Less than 30% cases

Intellectual disability, moderate Patent foramen ovale Deep philtrum Convex nasal ridge High forehead Posteriorly rotated ears Clinodactyly Abnormality of the face 11 pairs of ribs Malar flattening Overgrowth Hydrocephalus Strabismus High palate Anteverted nares Ventriculomegaly Abnormal heart morphology Abnormal facial shape Persistence of hemoglobin F Reticulocytopenia Increased mean corpuscular volume Long philtrum Amenorrhea Retinal detachment Recurrent respiratory infections Specific learning disability Cafe-au-lait spot Sinusitis Narrow face Otitis media Abnormality of the skin Triphalangeal thumb Finger syndactyly Protruding ear Polydactyly Chromosome breakage Muscular hypotonia Thick vermilion border Pneumonia Hypoplasia of the corpus callosum Delayed skeletal maturation Syndactyly Intellectual disability, mild Macrotia Diarrhea Rhabdomyosarcoma Attention deficit hyperactivity disorder Primary amenorrhea Bronchiectasis Wide nose Macrocytic anemia Severe intrauterine growth retardation Abnormality of the hand Abnormality of the genital system Hearing abnormality Arrhythmia Patent ductus arteriosus Type II diabetes mellitus Displacement of the external urethral meatus Abnormality of the skeletal system Recurrent infections Pallor Brachycephaly Hypothyroidism Ambiguous genitalia Microcornea Erythema Corneal opacity Cleft lip Fatigue Low anterior hairline Hemihypertrophy Cardiomyopathy Ptosis Short thumb Depressed nasal ridge Thick lower lip vermilion Neutropenia Non-midline cleft lip Autoimmune hemolytic anemia Asymmetric growth Penoscrotal hypospadias Recurrent pneumonia Dysgammaglobulinemia Cachexia Abnormality of the musculature Facial hemangioma Freckling Malar prominence Premature ovarian insufficiency Abnormality of neuronal migration Mastoiditis Long nose Right aortic arch T-cell lymphoma Neuroblastoma Anorectal anomaly Pollakisuria B lymphocytopenia Subcutaneous hemorrhage Decrease in T cell count Abnormal hair quantity Recurrent infection of the gastrointestinal tract Glioma Capillary malformation Perisylvian polymicrogyria Medulloblastoma Recurrent sinopulmonary infections B-cell lymphoma Recurrent bronchitis Short lower limbs Abnormal eyelid morphology Anal stenosis Hemimegalencephaly Lymphopenia Osteosarcoma Erythroid hypoplasia Partial duplication of thumb phalanx Everted upper lip vermilion Congenital hypoplastic anemia Parietal foramina Unilateral cleft lip Anemia of inadequate production Aplastic anemia Vascular ring Hypoplastic ilia Hypoplastic anemia Cutis marmorata telangiectatica congenita Thrombocytosis Absent thumb Vertebral fusion Colon cancer Congenital glaucoma Delayed cranial suture closure Hypoplasia of the radius Abnormal dermatoglyphics Branchial cyst Elevated red cell adenosine deaminase activity Abnormality of the hair Mental deterioration Chronic diarrhea Recurrent urinary tract infections Choanal atresia Kyphosis Neurodegeneration Hemolytic anemia Leukocoria Anal atresia Prominent nasal bridge Progressive macrocephaly Bifid thoracic vertebrae Hydronephrosis Respiratory failure Respiratory insufficiency Skeletal muscle atrophy Muscle weakness Ataxia Hypoplastic sacral vertebrae Hypoplastic coccygeal vertebrae Transient erythroblastopenia Progressive vitiligo Pulmonic stenosis Pes cavus Deeply set eye Syringomyelia Smooth philtrum Toe syndactyly Broad forehead Nevus flammeus Stroke Joint laxity Arnold-Chiari type I malformation Hernia Joint hypermobility Abnormality of cardiovascular system morphology Frontal bossing Hydrops fetalis Macrocephaly Cognitive impairment Hypoplasia of proximal fibula Severe postnatal growth retardation Large basal ganglia Hypoplasia of proximal radius Oral cleft Polymicrogyria Ivory epiphyses Redundant skin Hemangioma Cutaneous syndactyly Shock Purpura Ischemic stroke Multicystic kidney dysplasia Arnold-Chiari malformation Reduced bone mineral density Cutis marmorata Postaxial polydactyly Large for gestational age Cortical dysplasia Abnormality of digit Postaxial hand polydactyly Aplasia/Hypoplasia of the skin Vesicoureteral reflux Nevus Multiple cafe-au-lait spots Ascites Abnormal finger flexion creases Small anterior fontanelle Pes planus Thick eyebrow Pachygyria Cerebellar vermis hypoplasia Dental malocclusion Cavum septum pellucidum Arterial stenosis Triangular face Tapered finger Single transverse palmar crease Skin erosion Dental crowding Talipes Facial asymmetry Cutis laxa Synophrys Hip dislocation Microtia Blepharophimosis Abnormality of the pinna Hyperlordosis Hypoplasia of dental enamel Elbow flexion contracture Severe failure to thrive Abnormal cortical gyration Lumbar scoliosis Capillary hemangioma Megalencephaly Meningioma Varicose veins Selective tooth agenesis Acute monocytic leukemia Large earlobe Abnormality of the lower limb Abnormally large globe Narrow palate Cone-shaped epiphyses of the phalanges of the hand Proportionate short stature Dislocated radial head Arteriovenous malformation Clitoral hypertrophy Abnormality of the upper limb Atrial flutter Dilation of lateral ventricles Sandal gap Bone marrow hypocellularity Astigmatism Coarctation of aorta Renal cyst Bifid scrotum Limb-girdle muscular dystrophy Sarcoma Hyperpigmentation of the skin Intellectual disability, profound Oligohydramnios Dandy-Walker malformation Generalized myoclonic seizures Generalized tonic-clonic seizures Mild microcephaly Severe global developmental delay Muscular dystrophy Feeding difficulties in infancy Micropenis Agenesis of corpus callosum Cerebellar hypoplasia Midface retrusion Fetal distress Multiple renal cysts Short sternum Esophagitis Ichthyosis Squamous cell carcinoma Hand polydactyly Reduced number of teeth Hypopigmented skin patches Sacral dimple Azoospermia Hypertrichosis Decreased antibody level in blood Infertility Triangular mouth Dolichocephaly Skin rash Diabetes mellitus Hyperhidrosis Abnormality of the dentition Hypodysplasia of the corpus callosum Embryonal rhabdomyosarcoma Premature chromatid separation Cerebral hypoplasia Cleft soft palate Tracheomalacia Pulmonary fibrosis Abnormality of the uterus Hepatomegaly Delayed speech and language development Dysfunction of lateral corticospinal tracts Streak ovary Aplasia/Hypoplasia of the iris Abnormal vagina morphology Peters anomaly Gonadoblastoma Renal neoplasm Malabsorption Aniridia Abnormality of the genitourinary system Everted lower lip vermilion Nephropathy Hypertrophic cardiomyopathy Obesity Renal insufficiency Visual impairment Telecanthus Lymphadenopathy Abnormality of the urinary system Autistic behavior Melanoma Mitral regurgitation Ventricular hypertrophy Mitral valve prolapse Tetralogy of Fallot Migraine Bifid uvula Delayed puberty Autism Thin vermilion border Osteoporosis Large beaked nose Bird-like facies Abnormality of bone marrow cell morphology Severe combined immunodeficiency Biparietal narrowing Leukocytosis Psoriasiform dermatitis Hypoplasia of penis High pitched voice IgA deficiency Webbed neck Cortical gyral simplification Retinal dysplasia Abnormal toenail morphology Vitreoretinopathy Gangrene Abnormal eyelash morphology Underdeveloped supraorbital ridges Cellulitis Chorioretinal atrophy Agitation Chylothorax Flat occiput Anophthalmia Scaling skin Bilateral ptosis Optic nerve hypoplasia Venous thrombosis Pointed chin Muscle stiffness Leukonychia Retinal fold Lymphedema Flexion contracture Premature birth Nausea Nausea and vomiting Narrow chest Lethargy Abnormal cardiac septum morphology Congestive heart failure Vomiting Chorioretinal lacunae Congenital microcephaly Melanonychia Myopic astigmatism Chorioretinal dysplasia Exudative vitreoretinopathy Retinal thinning Panniculitis Erysipelas Abnormal nasolacrimal system morphology Prominent nasal tip Skin ulcer Abnormality of retinal pigmentation Hodgkin lymphoma Spotty hyperpigmentation Optic atrophy Myopia Spasticity Sensorineural hearing impairment Hearing impairment Facial telangiectasia in butterfly midface distribution Agenesis of maxillary lateral incisor Neoplasm of the gastrointestinal tract Spotty hypopigmentation Blindness Female infertility Decreased fertility in females IgM deficiency Abnormality of the nose Chronic obstructive pulmonary disease Chronic lung disease Hypoplastic pelvis Hypoplasia of the zygomatic bone IgG deficiency Intellectual disability, severe Hypertonia Amblyopia Retinal dystrophy Thickened skin Subcutaneous nodule Status epilepticus Bilateral sensorineural hearing impairment Pigmentary retinopathy Full cheeks Broad nasal tip Sleep disturbance Dry skin Visual loss Hypermetropia Retinopathy Aggressive behavior Neonatal hypotonia Rigidity Thin upper lip vermilion Mandibular prognathia Reduced visual acuity Prominent forehead Blue nevus


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