Immunodeficiency, and Renal agenesis

Diseases related with Immunodeficiency and Renal agenesis

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

Top matches:

Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser SyndromeFraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (OMIM ) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3) is caused by mutation in the GRIP1 gene (OMIM ) on chromosome 12q14.See Bowen syndrome (OMIM ) for a comparable but probably distinct syndrome of multiple congenital malformations.

FRASER SYNDROME 1; FRASRS1 Is also known as cryptophthalmos with other malformations|fraser syndrome|cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about FRASER SYNDROME 1; FRASRS1

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 Is also known as eec|eec syndrome 1

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, {163950}) (summary by Martinelli et al., 2018).

MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME Is also known as takenouchi-kosaki syndrome|macrothrombocytopenia and mental retardation syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME

Other less relevant matches:

The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2)|proximal monosomy 16p11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME

In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

Medium match 3C SYNDROME

Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).

3C SYNDROME Is also known as dandy-walker-like malformation with atrioventricular septal defect|craniocerebellocardiac dysplasia|3c syndrome|ritscher-schinzel syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3C SYNDROME

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Medium match CHARGE SYNDROME

CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).

CHARGE SYNDROME Is also known as charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies|hhs|charge association|coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome|hall

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHARGE SYNDROME

Top 5 symptoms//phenotypes associated to Immunodeficiency and Renal agenesis

Symptoms // Phenotype % cases
Microcephaly Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Cleft palate Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Inguinal hernia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Immunodeficiency and Renal agenesis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Recurrent infections

Common Symptoms - More than 50% cases

Unilateral renal agenesis

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis

Common Symptoms - More than 50% cases

Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Hydronephrosis

Common Symptoms - More than 50% cases

Hernia

Uncommon Symptoms - Between 30% and 50% cases

Seizures

Common Symptoms - More than 50% cases

Ventriculomegaly

Uncommon Symptoms - Between 30% and 50% cases

Posteriorly rotated ears Growth delay Muscular hypotonia Delayed speech and language development Renal dysplasia Intrauterine growth retardation Strabismus Anal atresia Hypospadias Low-set ears Behavioral abnormality Patent ductus arteriosus Hydrocephalus Hypoplasia of the corpus callosum Atrial septal defect Microphthalmia Abnormal heart morphology Micropenis Cleft lip Abnormality of the pinna Abnormal facial shape Attention deficit hyperactivity disorder Tetralogy of Fallot Blepharophimosis Short philtrum Hemivertebrae Obesity Pulmonic stenosis Short neck Feeding difficulties Cognitive impairment Micrognathia Umbilical hernia Hand polydactyly Ventricular septal defect Generalized hypotonia Nystagmus Ptosis Flexion contracture Midface retrusion Abnormality of cardiovascular system morphology Thrombocytopenia Hypothyroidism Wide nasal bridge Conductive hearing impairment Syndactyly Polydactyly Abnormality of the urinary system Growth hormone deficiency Photophobia Anal stenosis Gastroesophageal reflux Postnatal growth retardation Prominent forehead Dilatation Camptodactyly Abnormal cardiac septum morphology Vesicoureteral reflux Bulbous nose Underdeveloped nasal alae Cerebellar hypoplasia Choanal atresia Anophthalmia Omphalocele Dandy-Walker malformation Psoriasiform dermatitis Anemia Abnormality of the kidney Retrognathia Renal hypoplasia Oligohydramnios Hypocalcemia Posterior embryotoxon Pulmonary hypoplasia Microtia Recurrent respiratory infections Coloboma High palate Abnormality of the hand Long philtrum Abnormality of the thymus Depressed nasal bridge Interrupted aortic arch Prominent nasal bridge Iris coloboma Alopecia Talipes Bifid uvula Downslanted palpebral fissures Optic atrophy Abnormality of the skeletal system Specific learning disability Low posterior hairline Sensorineural hearing impairment Cleft upper lip Myelomeningocele Fever Malar flattening

Rare Symptoms - Less than 30% cases

Narrow mouth Cataract Hemolytic anemia Autoimmunity Clinodactyly Epidermal acanthosis Arthritis Rheumatoid arthritis Exotropia Obsessive-compulsive behavior Inflammation of the large intestine Synophrys Lymphopenia Webbed neck Tapered finger Highly arched eyebrow Cholelithiasis Short chin Acne Cerebral cortical atrophy Smooth philtrum Wide mouth Chorea Aplasia of the uterus Limb undergrowth Impaired T cell function Hyperactivity Autism Hypoparathyroidism Meningocele Sparse hair Long nose Truncus arteriosus Duodenal stenosis Deeply set eye Schizophrenia Short nose Arnold-Chiari malformation Broad forehead Right aortic arch Bicuspid aortic valve Perimembranous ventricular septal defect Psychosis Graves disease Juvenile rheumatoid arthritis Narrow palpebral fissure Seborrheic dermatitis Vitiligo Holoprosencephaly Amenorrhea Autoimmune hemolytic anemia Sacral meningocele Right aortic arch with mirror image branching Primary amenorrhea Spina bifida Arteria lusoria Aplasia of the thymus Conotruncal defect Neoplasm High forehead Nasal speech Retinal vascular tortuosity Pulmonary artery atresia Purpura Autoimmune thrombocytopenia Dysmetria Myopia Macrocephaly Anteverted nares Bipolar affective disorder Respiratory insufficiency Missing ribs Macrotia Hypogonadism Absent speech Dementia Failure to thrive Frontal bossing Choanal stenosis Intellectual disability, severe Kyphosis Abnormality of the ribs Blepharitis Horseshoe kidney Mixed hearing impairment Brachydactyly Bifid scrotum Ectrodactyly Absent septum pellucidum Nail dysplasia Hydroureter Broad nasal tip Keratitis Mental deterioration Plagiocephaly Conjunctivitis Hypogonadotrophic hypogonadism Ectodermal dysplasia Hypohidrosis Abnormality of the genital system Aplasia/Hypoplasia of the cerebellum Chorioretinal coloboma Cerebellar atrophy Absent eyelashes Oral cleft Submucous cleft hard palate Cutaneous syndactyly Ataxia Parathyroid hypoplasia Blindness Dysdiadochokinesis Corneal opacity Finger syndactyly High, narrow palate Postaxial polydactyly Dental malocclusion Multicystic kidney dysplasia Hypoplastic fingernail Astigmatism Hyperkeratosis Heat intolerance Telecanthus Severe short stature Small for gestational age Cupped ear Absent eyebrow Feeding difficulties in infancy Recurrent corneal erosions Hypoplasia of the thymus Pierre-Robin sequence Double outlet right ventricle Toe syndactyly Preauricular skin tag Urethral atresia Neurological speech impairment Skeletal dysplasia Ichthyosis follicularis Glaucoma Brachycephaly Unilateral chest hypoplasia Abnormal pelvis bone morphology Thin fingernail Scleritis Hypoplasia of the bladder Cerebral cortical hemiatrophy Paronychia Episcleritis Hyperconvex fingernails Abnormality of temperature regulation Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Corneal scarring Postural instability Narrow palate Intestinal malrotation Aplasia/Hypoplasia of the nipples Ectopic anus Depressivity Primum atrial septal defect Communicating hydrocephalus Mitral stenosis Cerebellar malformation Abnormal mitral valve morphology Complete atrioventricular canal defect Adrenal hypoplasia Lethal skeletal dysplasia Abnormal tricuspid valve morphology Abnormality of the fontanelles or cranial sutures Posterior fossa cyst Humoral immunodeficiency Facial hemangioma Contractures of the large joints Single umbilical artery Anxiety Decreased antibody level in blood Prominent occiput Hypoplasia of penis Cerebellar vermis hypoplasia Large fontanelles Aortic valve stenosis Wormian bones Abnormality of neuronal migration Hypoplastic left heart Hallucinations Aggressive behavior Open mouth Mesomelia Congenital glaucoma Peripheral demyelination Abnormality of the hip bone Atrioventricular canal defect Congenital cataract Narrow nasal bridge Enlarged cisterna magna Amblyopia Apathy Absent radius Tics Facial paralysis Retinal coloboma Duodenal atresia Eyelid coloboma Abnormally large globe Abnormal cranial nerve morphology Hypoplasia of the zygomatic bone Down-sloping shoulders Broad neck External ear malformation Esophageal atresia Abnormality of immune system physiology Abnormality of tibia morphology Weak cry Broad palm External genital hypoplasia Vestibular dysfunction Hypoplasia of the ulna Mask-like facies Tracheoesophageal fistula Overfolded helix Laryngomalacia Reduced number of teeth Abnormality of vision Anosmia Abnormality of the outer ear Hyposmia Labial hypoplasia Torticollis Aortic arch aneurysm Parachute mitral valve Hypoplasia of the semicircular canal Abnormal soft palate morphology Bifid femur Hypoplasia of the cochlea Hand monodactyly Unilateral facial palsy Aplasia/Hypoplasia of the thymus Abnormality of the inner ear Square face Abnormal palmar dermatoglyphics Abnormality of bone mineral density Abnormality of the adrenal glands Bilateral choanal atresia Aqueductal stenosis Lop ear Abnormality of the cervical spine Narrow naris Arrhinencephaly Dimple chin Abnormality of female internal genitalia Microphallus Lacrimation abnormality Abnormal aortic valve morphology Peripheral pulmonary artery stenosis Gonadotropin deficiency Anterior hypopituitarism Aplasia/Hypoplasia of the earlobes Cranial nerve paralysis Narrow face Hypoplasia of the brainstem Central nervous system degeneration Cheilitis Broad thumb Short palpebral fissure Coarctation of aorta Polymicrogyria Generalized tonic-clonic seizures Craniosynostosis Hypertonia Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Congenital conductive hearing impairment Perineal fistula Vascular ring Psychotic episodes Tetany Velopharyngeal insufficiency Giant platelets Paranoia Mood swings Platybasia Abnormality of the endocrine system Echolalia Delusions Hearing abnormality Axonal loss Basal ganglia calcification Abnormality of the ear Myopathic facies Sclerocornea Anterior segment developmental abnormality Aspiration Pneumonia Short thumb Small nail Delayed eruption of teeth Facial asymmetry Delayed puberty Pectus carinatum Paralysis Abnormality of the eye Apnea Low-set, posteriorly rotated ears Facial palsy Polyhydramnios Respiratory failure Clinodactyly of the 5th finger Femoral hernia Visual loss Talipes equinovarus Dysphagia Epicanthus Type I truncus arteriosus Parathyroid agenesis Decreased circulating parathyroid hormone level Accommodative esotropia Esophoria Vascular tortuosity Abnormality of the middle ear Perisylvian polymicrogyria Alcoholism Abnormality of the upper urinary tract Insulin resistance Alopecia universalis Abnormality of the nasopharynx Downturned corners of mouth Thin upper lip vermilion Reduced visual acuity Upslanted palpebral fissure Slow-growing scalp hair Absence of Stensen duct Transverse vaginal septum Abnormal salivary gland morphology Dacryocystitis Semilobar holoprosencephaly Ureterocele Nail pits Duplicated collecting system Ascites Nasolacrimal duct obstruction Selective tooth agenesis Central diabetes insipidus Bladder diverticulum Sparse pubic hair Rectovaginal fistula Dysuria Sparse axillary hair Generalized hypopigmentation Anodontia Fair hair Blue irides Depressed nasal tip Retinal detachment Nevus Split foot Retinal dysplasia Congestive heart failure Hypertension Motor delay Eversion of lateral third of lower eyelids Flared nostrils Intestinal lymphangiectasia Macrothrombocytopenia Increased mean platelet volume Total anomalous pulmonary venous return Anomalous pulmonary venous return Protein-losing enteropathy Mild microcephaly Congenital nystagmus Narrow forehead Abnormality of the periventricular white matter Abnormality of the sternum Pericardial effusion Overlapping toe Proximal placement of thumb Sparse eyebrow Hypoalbuminemia Tented upper lip vermilion Widely spaced teeth Abnormal intestine morphology Progressive microcephaly Lymphedema Bilateral sensorineural hearing impairment Bilateral cleft lip Xerostomia EEG abnormality Calvarial skull defect Difficulty in tongue movements Abnormality of the nares Upper eyelid coloboma Laryngeal stenosis Abnormality of the anus Bilateral renal agenesis Subglottic stenosis Bilateral microphthalmos Gonadoblastoma Vaginal atresia Bicornuate uterus Abnormal cortical gyration Postaxial foot polydactyly Cryptophthalmos Foot polydactyly Facial cleft Gonadal dysgenesis Aplasia/Hypoplasia of the thumb Cutaneous finger syndactyly Clitoral hypertrophy Atresia of the external auditory canal Renal hypoplasia/aplasia Dental crowding Encephalocele Ambiguous genitalia Wide intermamillary distance Wide nose Cleft ala nasi Laryngeal web Hypoplastic nipples Hypoplasia of the maxilla Hypopituitarism Epiphora Preaxial polydactyly Abnormality of the genitourinary system Oligodontia Sparse eyelashes Sparse and thin eyebrow Thin skin Split hand Sparse scalp hair Microdontia Hypodontia Abnormality of the foot Aplasia/Hypoplasia of the phalanges of the hand Carious teeth Abnormality of the umbilicus Aplasia/Hypoplasia of the sternum Malformed lacrimal duct Extension of hair growth on temples to lateral eyebrow Laryngeal atresia Abnormality of the small intestine Severe T-cell immunodeficiency Wide pubic symphysis Midline nasal groove Lacrimal duct aplasia Hypoplastic superior helix Morphological abnormality of the middle ear Intellectual disability, mild Autistic behavior Oxycephaly Agenesis of corpus callosum Dry skin Hypotrichosis Platyspondyly Nail dystrophy Papule Hip dislocation Camptodactyly of finger Scarring Erythema Respiratory tract infection Developmental regression Hyperhidrosis Delayed skeletal maturation Palmoplantar keratoderma Respiratory distress Long neck Gastrointestinal stroma tumor Multinodular goiter Glioma Chronic lung disease Shuffling gait Misalignment of teeth Low hanging columella Increased circulating gonadotropin level Abnormality of lipid metabolism Cerebellar vermis atrophy Truncal obesity Ichthyosis Brain atrophy Ectopic kidney Congenital ichthyosiform erythroderma Thin eyebrow Alopecia totalis Olivopontocerebellar atrophy Follicular hyperkeratosis Corneal erosion Abnormal eyelid morphology Abnormal eyelash morphology Alopecia of scalp Parakeratosis Uveitis Oligodactyly Atonic seizures Abnormality of the vertebral column Postaxial hand polydactyly Intestinal obstruction Erythroderma Scaling skin Urticaria Opacification of the corneal stroma Abnormality of dental enamel Recurrent bacterial infections Abnormality of the nail Abnormality of the hair Abnormal vertebral morphology Hypoplasia of dental enamel Aganglionic megacolon Eczema Cortical gyral simplification High pitched voice Flat face Severe intrauterine growth retardation Babinski sign Cardiomyopathy Gait disturbance Tremor Dysarthria Peripheral neuropathy Absent nasal bridge Widely-spaced maxillary central incisors Chorioretinitis Optic nerve coloboma Hydrocele testis Multiple renal cysts Arnold-Chiari type I malformation Diabetes mellitus Severe combined immunodeficiency Syringomyelia Combined immunodeficiency Language impairment Bilateral ptosis Pyloric stenosis Aortic regurgitation Microretrognathia Pointed chin Short toe Congenital diaphragmatic hernia Renal cyst Small hand Pes cavus Mandibular prognathia Sensory axonal neuropathy Sloping forehead Bilateral cryptorchidism Postural tremor Slurred speech Goiter Leukopenia Acanthosis nigricans Bone marrow hypocellularity Hypergonadotropic hypogonadism Abnormal lung morphology Broad-based gait Cutaneous photosensitivity Apraxia Hypotelorism Bradykinesia Rigidity Pigmentary retinopathy Decreased testicular size Convex nasal ridge Progressive cerebellar ataxia Triangular face Polyneuropathy Sensory neuropathy Falls Long face Hypermetropia Dilated cardiomyopathy Abnormal pyramidal sign Retinopathy Posterior choanal atresia


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