Hydrocephalus, and Sepsis

Diseases related with Hydrocephalus and Sepsis

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

Top matches:

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A

High match ICF SYNDROME

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

GRISCELLI SYNDROME, TYPE 2; GS2 Is also known as partial albinism and immunodeficiency syndrome|griscelli syndrome with hemophagocytic syndrome|paid syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GRISCELLI SYNDROME, TYPE 2; GS2

Other less relevant matches:

Medium match ALG12-CDG

ALG12-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. ALG12-CDG is caused by loss of function mutations of the gene ALG12 (22q13.33).

ALG12-CDG Is also known as cdg1g|mannosyltransferase 8 deficiency|congenital disorder of glycosylation type ig|cdgig|cdg ig|carbohydrate deficient glycoprotein syndrome type ig|cdg syndrome type ig|congenital disorder of glycosylation type 1g|cdg-ig

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG12-CDG

Medium match MIRAGE SYNDROME

MIRAGE syndrome is a form of syndromic adrenal hypoplasia, characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. The condition is often fatal within the first decade of life, usually as a result of invasive infection (Narumi et al., 2016).

MIRAGE SYNDROME Is also known as myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome|myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome|myelodysplasia, infection, restriction of gr

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about MIRAGE SYNDROME

Infantile malignant osteopetrosis is a rare congenital disorder of bone resorption characterised by generalised skeletal densification.

AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS Is also known as infantile malignant osteopetrosis|osteopetrosis, infantile malignant 2

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS

Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.

GORLIN-CHAUDHRY-MOSS SYNDROME Is also known as gcm syndrome|gorlin-chaudhry-moss syndrome|craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence|craniofacial dysostosis-genital, dental, cardiac anomalies syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about GORLIN-CHAUDHRY-MOSS SYNDROME

The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Medium match COSTELLO SYNDROME

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Lissencephaly (LIS), literally meaning smooth brain, is characterized by smooth or nearly smooth cerebral surface and a paucity of gyral and sulcal development, encompassing a spectrum of brain surface malformations ranging from complete agyria to subcortical band heterotopia (SBH). Classic lissencephaly is associated with an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia. SBH consists of circumferential bands of heterotopic neurons located just beneath the cortex and separated from it by a thin band of white matter. SBH represents the less severe end of the lissencephaly spectrum of malformations (Pilz et al., 1999, summary by Kato and Dobyns, 2003). Agyria, i.e., brain without convolutions or gyri, was considered a rare malformation until recent progress in neuroradiology (Bordarier et al., 1986). With this technical advantage, a number of lissencephaly syndromes have been distinguished.Classic lissencephaly (formerly type I) is a brain malformation caused by abnormal neuronal migration at 9 to 13 weeks' gestation, resulting in a spectrum of agyria, mixed agyria/pachygyria, and pachygyria. It is characterized by an abnormally thick and poorly organized cortex with 4 primitive layers, diffuse neuronal heterotopia, enlarged and dysmorphic ventricles, and often hypoplasia of the corpus callosum. (Lo Nigro et al., 1997).Kato and Dobyns (2003) presented a classification system for neuronal migration disorders based on brain imaging findings and molecular analysis. The authors also reviewed the contributions and interactions of the 5 genes then known to cause human lissencephaly: LIS1 or PAFAH1B1, 14-3-3-epsilon (YWHAE), DCX, RELN, and ARX. Genetic Heterogeneity of LissencephalyLissencephaly is a genetically heterogeneous disorder. See also LIS2 (OMIM ), caused by mutation in the RELN gene (OMIM ) on chromosome 7q22; LIS3 (OMIM ), caused by mutation in the TUBA1A gene (OMIM ) on chromosome 12q13; LIS4 (OMIM ), caused by mutation in the NDE1 gene (OMIM ) on chromosome 16p13; LIS5 (OMIM ), caused by mutation in the LAMB1 gene (OMIM ) on chromosome 7q; LIS6 (OMIM ), caused by mutation in the KATNB1 gene (OMIM ) on chromosome 16q21; LIS7 (OMIM ), caused by mutation in the CDK5 gene (OMIM ) on chromosome 7q36; and LIS8 (OMIM ), caused by mutation in the TMTC3 gene (OMIM ) on chromosome 12q21.X-linked forms include LISX1 (OMIM ), caused by mutation in the DCX gene (OMIM ) on chromosome Xq22.3-q23, and LISX2 (OMIM ), caused by mutation in the ARX gene (OMIM ) on chromosome Xp22.3-p21.1.See also Miller-Dieker lissencephaly syndrome (MDLS ), a contiguous gene microdeletion syndrome involving chromosome 17p13 and including the PAFAH1B1 and YWHAE (OMIM ) genes. Lissencephaly caused by mutations in the PAFAH1B1 gene is also called 'isolated' lissencephaly to distinguish it from the accompanying features of MDLS.

LISSENCEPHALY 1; LIS1 Is also known as lissencephaly, classic|ils|lissencephaly sequence, isolated

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about LISSENCEPHALY 1; LIS1

Top 5 symptoms//phenotypes associated to Hydrocephalus and Sepsis

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hydrocephalus and Sepsis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Nystagmus Intellectual disability Failure to thrive Abnormal facial shape Cryptorchidism Anemia Hypertelorism Hypospadias Micrognathia Low-set ears Anteverted nares Depressed nasal bridge Macrocephaly Gastroesophageal reflux Scoliosis Atrial septal defect Talipes equinovarus Hepatomegaly Feeding difficulties Hearing impairment High, narrow palate Decreased antibody level in blood Respiratory tract infection Tricuspid regurgitation Thrombocytopenia Astigmatism Hypertension Cardiomyopathy Abnormality of the pinna Intrauterine growth retardation Pyloric stenosis Hypoglycemia Recurrent urinary tract infections Craniosynostosis Abnormality of the dentition Postnatal growth retardation Long philtrum Hernia Abnormal heart morphology Delayed skeletal maturation Edema Muscular hypotonia Proptosis Recurrent respiratory infections Otitis media Patent ductus arteriosus Immunodeficiency Epicanthus Short nose Wide anterior fontanel Triangular face Strabismus Decreased body weight

Rare Symptoms - Less than 30% cases

Delayed eruption of teeth Respiratory failure Apnea Pallor Hyperhidrosis Reduced subcutaneous adipose tissue Pulmonary arterial hypertension Abnormal pulmonary valve morphology Downslanted palpebral fissures Respiratory insufficiency Hypoplasia of the corpus callosum Intellectual disability, mild Aspiration pneumonia Pulmonic stenosis Rocker bottom foot Scrotal hypoplasia Cognitive impairment Relative macrocephaly Long eyelashes Midface retrusion Micropenis Hypocalcemia Hypoplasia of the radius Hyperpigmentation of the skin Webbed neck Motor delay Sleep disturbance Thick upper lip vermilion Syndactyly Hypertrophic cardiomyopathy Severe short stature Short neck Inguinal hernia Pneumothorax Ventriculomegaly Tetraplegia Microdontia Cerebellar vermis hypoplasia Low posterior hairline Hypertrichosis Deep palmar crease Neoplasm Heterotopia Pachygyria Low anterior hairline Redundant skin Aortic aneurysm Hypoplastic nipples Pulmonary hypoplasia Synophrys Bilateral cryptorchidism Delayed speech and language development Ventricular septal defect Abnormality of the skeletal system Cerebellar hypoplasia Myopia Posteriorly rotated ears Brachycephaly High palate Hypermetropia Narrow mouth Ptosis Mandibular prognathia Retrognathia Thin upper lip vermilion Conductive hearing impairment Sparse hair Sensorineural hearing impairment Optic atrophy Lymphopenia Lymphadenopathy Spasticity Fever Vomiting Splenomegaly Pneumonia Petechiae Hepatosplenomegaly Abnormality of movement Cranial nerve paralysis Umbilical hernia Peripheral demyelination Ascites Leukopenia Abnormal cerebellum morphology Diarrhea Central hypotonia Recurrent bacterial infections Bone marrow hypocellularity Pancytopenia Abnormality of neutrophils Recurrent infections Generalized edema Wide nasal bridge Macroglossia Cerebral atrophy Protruding tongue Shawl scrotum Osteoporosis Hyperkeratosis Cerebral cortical atrophy Hypogonadism Tachycardia Systolic heart murmur Increased corneal curvature Lymphangiectasis Wide nose Polyhydramnios Arrhythmia Thick vermilion border Pectus excavatum Myofiber disarray Absent speech Abnormality of cardiovascular system morphology Renal insufficiency Myopathy Pes cavus Vitreomacular adhesion Kyphoscoliosis Low-set, posteriorly rotated ears Feeding difficulties in infancy Congenital neuroblastoma Wide mouth Pectus carinatum Arthrogryposis multiplex congenita Delayed puberty Joint hyperflexibility Alveolar rhabdomyosarcoma Dysphagia Osteopenia Intellectual disability, moderate Joint laxity Joint hypermobility Tendon rupture Abnormality of the nervous system Thickened Achilles tendon Carcinoma Coarse facial features Irritability Myoclonus Concave nail Frontal bossing Poor appetite Short sternum Peters anomaly Panhypopituitarism Volvulus Recurrent hypoglycemia Mild global developmental delay Optic nerve coloboma Abnormality of the gastrointestinal tract Hypoplastic labia majora Esophagitis Hiatus hernia Agyria Ectrodactyly Progressive spasticity Oligodactyly Perivascular spaces Dislocated radial head Weak cry Abnormality of digit Limited elbow extension Opisthotonus Ectopic kidney 2-3 toe syndactyly Short middle phalanx of finger Cutis marmorata Clubbing Proximal placement of thumb Perimembranous ventricular septal defect Hand oligodactyly Muscular hypotonia of the trunk Otitis media with effusion Abnormality of the cerebral white matter Dysarthria Focal-onset seizure Hematuria Postnatal microcephaly Absence seizures Spastic tetraparesis Lissencephaly Dysplastic tricuspid valve Hypoplastic radial head Abnormality of the umbilicus Reduced renal corticomedullary differentiation Focal impaired awareness seizure Phocomelia Malrotation of colon Hypoplasia of the brainstem Duplication of internal organs Abnormality of neuronal migration Projectile vomiting Left-to-right shunt Hypertropia Esophageal stenosis Hypoplastic male external genitalia Curly eyelashes Absent hand Gastroparesis Supernumerary ribs Febrile seizures Growth hormone deficiency Enlarged cerebellum Arnold-Chiari type I malformation Hematemesis Melena Triangular mouth Fragile nails Thickened nuchal skin fold Capillary malformation Microscopic hematuria Severe postnatal growth retardation Obstructive sleep apnea Soft skin Neonatal hypoglycemia Syringomyelia Megalencephaly Tracheomalacia Generalized hyperpigmentation Ulnar deviation of finger Bladder neoplasm Rhabdomyolysis Neuroblastoma Curly hair Keratoconus Neurodevelopmental delay Large for gestational age Hypoplastic toenails Deep plantar creases Barrel-shaped chest Hyperglycemia Asymmetric septal hypertrophy Hyperextensibility of the finger joints Rhabdomyosarcoma Broad femoral neck Schwannoma Abnormality of earlobe Fasting hypoglycemia Limited elbow movement Fetal distress Broad philtrum Bronchomalacia Abnormal mitral valve morphology Labial hypoplasia Progeroid facial appearance Redundant neck skin Abnormality of the testis Lack of skin elasticity Papilloma Central apnea Large face Thin nail Verrucae Large forehead Achilles tendon contracture Large earlobe Woolly hair Short metatarsal Heart murmur Postural instability Eczema Apraxia Hypopnea Concentric hypertrophic cardiomyopathy Transitional cell carcinoma of the bladder Mitral valve prolapse Ganglioneuroblastoma Frontal hirsutism Vestibular Schwannoma Deep-set nails Embryonal rhabdomyosarcoma Multifocal atrial tachycardia Neonatal sepsis Postprandial hyperglycemia Choroid plexus papilloma Overgrowth Hip dysplasia Bladder carcinoma Abnormality of the skin Hypoplasia of teeth Cardiomyocyte hypertrophy Premature birth Loose anagen hair Nevus Full cheeks Macrocephaly at birth Shyness Epidermal acanthosis Pleural effusion Cutis laxa Duodenal ulcer Ulnar deviation of the wrist Failure to thrive in infancy Hyperextensible skin Poor suck Laryngomalacia Arnold-Chiari malformation Body odor Hemangioma Infantile muscular hypotonia Abnormal dermatoglyphics Acanthosis nigricans Thick lower lip vermilion Abnormality of the fingernails Short chin Abnormality of dental enamel Narrow palate Pointed chin Hoarse voice Abnormality of the hair Cafe-au-lait spot Hydrops fetalis Lymphedema Hypoplasia of dental enamel Atrial fibrillation Self-injurious behavior Absent nipple Deep philtrum Severe global developmental delay Short femur Short tibia IgG deficiency Abnormality of immune system physiology Short humerus Epiphyseal dysplasia Sandal gap Progressive microcephaly Rhizomelia Abnormality of the genital system Limb undergrowth Short philtrum Butterfly vertebrae Skeletal dysplasia Blindness Accumulation of melanosomes in melanocytes Melanin pigment aggregation in hair shafts Silver-gray hair Cutaneous anergy Reduced delayed hypersensitivity Partial albinism Hemophagocytosis White hair Edema of the lower limbs Prolonged partial thromboplastin time Paraplegia Abnormal eyelash morphology Microphallus Abnormal blistering of the skin Recurrent fractures Bruising susceptibility Narrow chest Facial palsy Abnormality of metabolism/homeostasis Tremor Visual impairment Hypoplastic spleen Radial club hand Esophageal stricture Achalasia Decreased testicular size Overlapping fingers Adrenal hypoplasia Hyperkalemia Adrenal insufficiency Hyponatremia Myelodysplasia Intracranial hemorrhage Abnormal intestine morphology Meningitis Hypergonadotropic hypogonadism Chronic diarrhea Abnormal eyebrow morphology Pulmonary infiltrates Abnormality of the metaphysis Periorbital fullness Bronchiectasis Neurodegeneration Flat face Malabsorption High forehead Malar flattening Abnormality of the male genitalia Abnormality of the hairline Elevated long chain fatty acids Cranial asymmetry CNS demyelination Delayed closure of the anterior fontanelle Recurrent pneumonia Abnormal cortical bone morphology Renal tubular dysfunction Double outlet right ventricle Scaphocephaly Cholelithiasis Hyperbilirubinemia Decreased fetal movement Prominent nose Hepatic failure Neonatal hypotonia Elevated hepatic transaminase Sinusitis Malnutrition Abnormality of lipid metabolism Nausea and vomiting Iris hypopigmentation Premature graying of hair Albinism Hypopigmented skin patches Reduced tendon reflexes Hyperlipidemia Encephalocele Progressive neurologic deterioration Hepatitis Hypopigmentation of the skin Neutropenia Lethargy Combined immunodeficiency Rigidity Jaundice Ataxia Impaired T cell function Decrease in T cell count Abnormality of chromosome stability Cellular immunodeficiency Chronic bronchitis Communicating hydrocephalus Agammaglobulinemia Bronchitis Abnormality of the ribs Bowing of the long bones Incoordination Clinodactyly of the 5th finger Small for gestational age Prominent nasal bridge Autistic behavior Camptodactyly Telecanthus Aggressive behavior Proteinuria Autism Glaucoma Hyperactivity Prominent forehead Clinodactyly Toe syndactyly Headache Behavioral abnormality Hypertonia Intellectual disability, severe Cleft palate Aplasia/Hypoplasia of the nasal bone Aplastic/hypoplastic lacrimal glands Congenital craniofacial dysostosis Hypoplasia of the abdominal wall musculature Wide nasal ridge Absent distal phalanges Hip dislocation Micromelia Recurrent aspiration pneumonia Congenital diaphragmatic hernia Abnormality of the urinary system Widely spaced teeth Torticollis Spontaneous abortion Elbow flexion contracture Increased body weight Aspiration Choanal atresia Renal hypoplasia Blue sclerae High myopia Vesicoureteral reflux Vertigo Renal cyst Microcornea Tapered finger Single transverse palmar crease Highly arched eyebrow Small hand Downturned corners of mouth Hirsutism Thick eyebrow Thin vermilion border Cleft upper lip Upper eyelid coloboma Absence of subcutaneous fat Abnormality of epiphysis morphology Optic nerve compression Short distal phalanx of finger Smooth philtrum Abnormality of the foot Platyspondyly Broad forehead Abnormality of the eye Microphthalmia Respiratory distress Brachydactyly Muscle weakness Opsoclonus Abnormality of temperature regulation Hypoplasia of the maxilla Abnormality of hair texture Chronic rhinitis Premature loss of primary teeth Osteopetrosis Pulmonary artery stenosis Abnormality of visual evoked potentials Reticulocytosis Hypophosphatemia Reduced bone mineral density Increased bone mineral density Bone pain Everted lower lip vermilion Intestinal malrotation Dermal translucency Natal tooth Hypoplasia of the musculature Prominent superficial veins Premature skin wrinkling Abnormal eyelid morphology Sclerocornea Coronal craniosynostosis Abnormality of the skull Turricephaly Underdeveloped supraorbital ridges Prematurely aged appearance Anteriorly placed anus Anonychia Convex nasal ridge Large hands Coarse hair Abnormality of vision Abnormality of the metacarpal bones Oligodontia Bicuspid aortic valve Generalized hirsutism Left ventricular hypertrophy Sparse scalp hair Short palpebral fissure Small nail Oligohydramnios Type I lissencephaly


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