Immunodeficiency, and Hydronephrosis

Diseases related with Immunodeficiency and Hydronephrosis

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

Top matches:

High match MONOSOMY 22Q13

Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.

MONOSOMY 22Q13 Is also known as 22q13 deletion|phelan-mcdermid syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 22Q13

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

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

Other less relevant matches:

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

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

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

High 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

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

Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

High 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 Hydronephrosis

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Renal dysplasia

Uncommon Symptoms - Between 30% and 50% cases

Seizures

Common Symptoms - More than 50% cases

Recurrent infections

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis

Common Symptoms - More than 50% cases

Patent ductus arteriosus

Uncommon Symptoms - Between 30% and 50% cases

Short stature

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Ptosis

Common Symptoms - More than 50% cases

Feeding difficulties

Uncommon Symptoms - Between 30% and 50% cases

Renal agenesis Micrognathia Growth delay Inguinal hernia Hypertelorism Generalized hypotonia Cryptorchidism Atrial septal defect Anal atresia Muscular hypotonia Ventriculomegaly Umbilical hernia Macrotia Wide nasal bridge Ventricular septal defect Hypospadias Behavioral abnormality Cleft lip Recurrent respiratory infections Posteriorly rotated ears Intrauterine growth retardation Choanal atresia Hernia Growth hormone deficiency Abnormality of the kidney Abnormal heart morphology Abnormality of the skeletal system Vesicoureteral reflux Delayed speech and language development Epicanthus Malar flattening Obesity Unilateral renal agenesis Gastroesophageal reflux Abnormality of the pinna Abnormal cardiac septum morphology Abnormal facial shape Bulbous nose Dental malocclusion Hypohidrosis Flexion contracture Depressed nasal bridge Brachydactyly Hydroureter Diarrhea Prominent forehead Hydrocephalus Hand polydactyly Short neck Kyphosis Heat intolerance Omphalocele Abnormality of the urinary system Camptodactyly Abnormality of the genital system Hemivertebrae Dandy-Walker malformation High, narrow palate Highly arched eyebrow Dilatation Pulmonic stenosis Cerebellar hypoplasia Failure to thrive Astigmatism Microphthalmia Micropenis Abnormality of cardiovascular system morphology Low-set ears Prominent nasal bridge Feeding difficulties in infancy Hypothyroidism Hemolytic anemia Downslanted palpebral fissures Optic atrophy Lymphedema Long eyelashes Intellectual disability, moderate Nystagmus Anal stenosis Autoimmune hemolytic anemia Hyperactivity Agenesis of corpus callosum Clinodactyly of the 5th finger Macrocephaly Attention deficit hyperactivity disorder Hypoplasia of the corpus callosum Long philtrum Pneumonia Postnatal growth retardation Cleft upper lip Coloboma Iris coloboma Thrombocytopenia Retrognathia Microtia Short philtrum High palate Tetralogy of Fallot Syndactyly Alopecia Horseshoe kidney Midface retrusion Photophobia

Rare Symptoms - Less than 30% cases

Clinodactyly Webbed neck Abnormal eyelid morphology Exotropia Anorectal anomaly Abnormality of the periventricular white matter Eversion of lateral third of lower eyelids Absent speech Sensorineural hearing impairment Cerebral cortical atrophy Abnormality of the hand Cognitive impairment Hypocalcemia Chorioretinal coloboma Aplasia/Hypoplasia of the cerebellum Posterior embryotoxon Double outlet right ventricle Mitral stenosis Anemia Narrow mouth Autoimmunity Polymicrogyria Coarctation of aorta Purpura Low posterior hairline Autoimmune thrombocytopenia Vitiligo Interrupted aortic arch Abnormality of the middle ear Abnormality of the thymus Parathyroid hypoplasia Visual loss Paralysis Small nail Cupped ear Retinal coloboma Preauricular skin tag Decreased antibody level in blood Abnormality of the dentition Frontal bossing Intellectual disability, mild Autism Anxiety Protruding ear Facial asymmetry Multicystic kidney dysplasia Short chin Abnormality of the outer ear Weak cry Myopia Severe short stature Intestinal malrotation Talipes Specific learning disability Abnormality of the ribs Abnormal vertebral morphology Plagiocephaly Lymphopenia Psoriasiform dermatitis Bifid scrotum Mixed hearing impairment Hypoplastic fingernail Bifid uvula Abnormality of neuronal migration Respiratory tract infection Abnormality of the hair Hypoplastic toenails Hypermetropia Large hands Respiratory insufficiency Upslanted palpebral fissure Respiratory failure Mental deterioration Deeply set eye Ataxia Prominent nose Otitis media Palpebral edema Amenorrhea Arachnoid cyst Primary amenorrhea Neoplasm Recurrent skin infections Keratitis Thick eyebrow Full cheeks Hypogonadotrophic hypogonadism Oligohydramnios Conjunctivitis Microdontia Sleep disturbance Dental crowding Sacral dimple Pointed chin Recurrent corneal erosions Hypoplasia of the thymus Nail dysplasia Nausea and vomiting Accelerated skeletal maturation Ectodermal dysplasia Impaired pain sensation Hypodontia Cafe-au-lait spot Small for gestational age Blepharophimosis Telecanthus Dolichocephaly Blepharitis Conductive hearing impairment Hyperkeratosis Toe syndactyly Neonatal hypotonia Polydactyly Cerebellar cortical atrophy Fever Recurrent pyelonephritis Hair-pulling Bruxism Autistic behavior Sparse and thin eyebrow Oral cleft Pulmonary hypoplasia Depressed nasal tip Ectrodactyly Chronic diarrhea Absent septum pellucidum Wide nose Aplasia of the thymus Conotruncal defect Vascular tortuosity Hypoglycemia Joint hypermobility Increased body weight Retinal vascular tortuosity Malabsorption Duodenal stenosis Perisylvian polymicrogyria Joint laxity Impaired T cell function Congenital hip dislocation Arteria lusoria Congenital diaphragmatic hernia Heterotopia Parathyroid agenesis Pes planus Blue sclerae Hirsutism Depressivity Renal insufficiency Type I truncus arteriosus Jaundice Single transverse palmar crease Right aortic arch Decreased circulating parathyroid hormone level Sacral meningocele Accommodative esotropia Recurrent otitis media Esophoria Right aortic arch with mirror image branching Acne Alcoholism Abnormal tricuspid valve morphology Craniosynostosis Arthritis Hypertonia Primum atrial septal defect Cerebellar malformation Humoral immunodeficiency Facial hemangioma Contractures of the large joints Posterior fossa cyst Abnormality of the fontanelles or cranial sutures Lethal skeletal dysplasia Chorea Complete atrioventricular canal defect Aplasia/Hypoplasia of the nipples Abnormal mitral valve morphology Communicating hydrocephalus Enlarged cisterna magna Ectopic anus Single umbilical artery Missing ribs Pierre-Robin sequence Adrenal hypoplasia Narrow nasal bridge Generalized tonic-clonic seizures Short palpebral fissure Femoral hernia Meningocele Perimembranous ventricular septal defect Graves disease Aplasia of the uterus Anterior segment developmental abnormality Seborrheic dermatitis Juvenile rheumatoid arthritis Tetany Myelomeningocele Truncus arteriosus Sclerocornea Hypoparathyroidism Broad thumb Bipolar affective disorder Inflammation of the large intestine Abnormal dermatoglyphics Rheumatoid arthritis Cholelithiasis Nasal speech Arnold-Chiari malformation Schizophrenia Bicuspid aortic valve Spina bifida Amblyopia Hyperbilirubinemia Right bundle branch block Poor suck Broad palm Facial paralysis Duodenal atresia Eyelid coloboma Abnormally large globe Choanal stenosis Abnormal cranial nerve morphology Hypoplasia of the zygomatic bone Down-sloping shoulders Broad neck External ear malformation Esophageal atresia Absent radius Abnormality of immune system physiology External genital hypoplasia Hyposmia Vestibular dysfunction Hypoplasia of the ulna Mask-like facies Tracheoesophageal fistula Anophthalmia Obsessive-compulsive behavior Overfolded helix Laryngomalacia Reduced number of teeth Abnormality of vision Anosmia Cutaneous syndactyly Cranial nerve paralysis Torticollis Tics Abnormality of tibia morphology Narrow face 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 Labial hypoplasia 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 Aqueductal stenosis Holoprosencephaly Aspiration Failure to thrive in infancy Overweight Diaphragmatic eventration Ureteropelvic junction obstruction Recurrent ear infections Anterior plagiocephaly Trichorrhexis nodosa Broad philtrum Small face Cholangitis Optic nerve coloboma Short 5th finger Short columella Patellar dislocation Scaphocephaly Hashimoto thyroiditis Biliary atresia IgA deficiency Thyroiditis Congenital hypothyroidism Cerebellar vermis atrophy Transposition of the great arteries Severe hearing impairment Long palpebral fissure Celiac disease Abnormality of the hip bone Bundle branch block Preauricular pit Bilateral cryptorchidism Precocious puberty Brittle hair Bronchomalacia Prominent fingertip pads Short thumb Dysphagia Renal hypoplasia Delayed eruption of teeth Delayed puberty Pectus carinatum Abnormality of the eye Apnea Low-set, posteriorly rotated ears Facial palsy Polyhydramnios Hypogonadism Blindness Anteverted nares Talipes equinovarus Congenital mitral stenosis Recurrent aspiration pneumonia Anoperineal fistula Nocturnal lagophthalmos Vertical orbital dystopia Pilonidal sinus Short nasal septum Premature thelarche Prominent eyelashes Liver abscess Sclerosing cholangitis Single ventricle Crossed fused renal ectopia Common atrium Vertebral clefting Epibulbar dermoid Atrioventricular canal defect Carious teeth Congenital glaucoma Overlapping toe Intestinal lymphangiectasia Macrothrombocytopenia Increased mean platelet volume Total anomalous pulmonary venous return Anomalous pulmonary venous return Protein-losing enteropathy Mild microcephaly Retinal dysplasia Congenital nystagmus Abnormality of the nasopharynx Abnormality of the sternum Pericardial effusion Nail pits Duplicated collecting system Proximal placement of thumb Sparse eyebrow Hypoalbuminemia Tented upper lip vermilion Widely spaced teeth Abnormal intestine morphology Progressive microcephaly Ureterocele Bilateral sensorineural hearing impairment Narrow forehead Semilobar holoprosencephaly Dacryocystitis Flared nostrils Nasolacrimal duct obstruction Ascites Aggressive behavior Nephrolithiasis Broad-based gait Hepatitis Renal cyst Fair hair Thick vermilion border Hepatic failure Unsteady gait Anodontia Generalized hypopigmentation Sparse axillary hair Irritability Dysuria Pain EEG abnormality Rectovaginal fistula Constipation Hyporeflexia Headache Sparse pubic hair Vomiting Bladder diverticulum Gait disturbance Motor delay Central diabetes insipidus Selective tooth agenesis Nevus Tapered finger Cerebral visual impairment Hearing abnormality B lymphocytopenia Decrease in T cell count Abnormal hair quantity Rhabdomyosarcoma Glioma Abnormality of chromosome stability Medulloblastoma Recurrent sinopulmonary infections B-cell lymphoma Recurrent bronchitis Bronchiectasis Acute leukemia Acute lymphoblastic leukemia T-cell lymphoma Telangiectasia Neuroblastoma Abnormality of the musculature Freckling Long nose Non-midline cleft lip Combined immunodeficiency Sinusitis Premature ovarian insufficiency Deep philtrum Cachexia Recurrent pneumonia Pollakisuria Recurrent infection of the gastrointestinal tract Urethral atresia Skeletal muscle atrophy Retinal detachment Downturned corners of mouth Smooth philtrum Abnormal salivary gland morphology Synophrys Transverse vaginal septum Wide mouth Absence of Stensen duct Thin upper lip vermilion Reduced visual acuity Slow-growing scalp hair Muscle weakness Abnormality of the nervous system Penoscrotal hypospadias Cerebellar atrophy Leukemia Neurodegeneration Lymphoma Convex nasal ridge Sloping forehead Cutaneous photosensitivity Abnormality of the face Recurrent urinary tract infections Progressive vitiligo Mastoiditis Malar prominence Dysgammaglobulinemia Tall stature Blue irides Mesomelia Olivopontocerebellar atrophy Episcleritis Hyperconvex fingernails Abnormality of temperature regulation Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Corneal scarring Abnormality of the upper urinary tract Cheilitis Alopecia universalis Oxycephaly Thin eyebrow Alopecia totalis Follicular hyperkeratosis Cerebral cortical hemiatrophy Corneal erosion Absent eyelashes Abnormal eyelash morphology Alopecia of scalp Parakeratosis Uveitis Submucous cleft hard palate Oligodactyly Atonic seizures Congenital ichthyosiform erythroderma Abnormality of the vertebral column Absent eyebrow Paronychia Hypoplasia of the bladder Erythroderma Neurological speech impairment Prominent occiput Hypoplastic left heart Narrow palate Wormian bones Aortic valve stenosis Large fontanelles Cerebellar vermis hypoplasia Hypoplasia of penis Limb undergrowth Low anterior hairline Postural instability Finger syndactyly Broad forehead Scleritis Abnormality of the foot Sparse hair Skeletal dysplasia High forehead Glaucoma Brachycephaly Hypoplasia of the maxilla Short nose Broad nasal tip Unilateral chest hypoplasia Ichthyosis follicularis Abnormal pelvis bone morphology Thin fingernail Intestinal obstruction Sparse scalp hair Bilateral cleft lip Toenail dysplasia Hyperhidrosis Dementia Epiphora Delayed skeletal maturation Hypopituitarism Intellectual disability, severe Respiratory distress Hypoplastic nipples Xerostomia Fulminant hepatic failure Tongue thrusting Hyperorality Episodic vomiting Preaxial polydactyly Periorbital fullness Delayed CNS myelination Concave nasal ridge Poor eye contact Split foot Cellulitis 2-3 toe syndactyly Polycystic kidney dysplasia Prominent supraorbital ridges Recurrent upper respiratory tract infections Poor head control Increased intracranial pressure Developmental regression Erythema Scaling skin Sparse eyelashes Urticaria Split hand Thin skin Opacification of the corneal stroma Abnormality of dental enamel Recurrent bacterial infections Abnormality of the nail Hypoplasia of dental enamel Aganglionic megacolon Epidermal acanthosis Eczema Postaxial hand polydactyly Brain atrophy Scarring Palmoplantar keratoderma Postaxial polydactyly Ichthyosis Dry skin Oligodontia Abnormality of the genitourinary system Hypotrichosis Platyspondyly Nail dystrophy Papule Hip dislocation Corneal opacity Camptodactyly of finger Posterior choanal atresia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Motor delay and Lymphedema, related diseases and genetic alterations Neuroblastoma and Neonatal hypotonia, related diseases and genetic alterations High palate and Dilated cardiomyopathy, related diseases and genetic alterations