Ataxia, and Hydronephrosis

Diseases related with Ataxia and Hydronephrosis

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


Top matches:

Medium match JOUBERT SYNDROME 35; JBTS35


Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 35; JBTS35

Medium match WOLFRAM SYNDROME 1; WFS1


Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and deafness (DIDMOAD). Additional clinical features may include renal abnormalities, ataxia, dementia or mental retardation, and diverse psychiatric illnesses. The minimal diagnostic criteria for Wolfram syndrome are optic atrophy and diabetes mellitus of juvenile onset. Hearing impairment in Wolfram syndrome is typically progressive and mainly affects the higher frequencies, but a small fraction of affected individuals have congenital deafness (summary by Rendtorff et al., 2011).Autosomal dominant mutations in the WFS1 gene have been found to cause low-frequency nonsyndromic deafness (OMIM ) as well as a Wolfram syndrome-like phenotype (OMIM ) in which affected individuals have hearing impairment with diabetes mellitus and/or optic atrophy. Genetic Heterogeneity of Wolfram SyndromeWolfram syndrome-2 (WFS2 ) is caused by mutation in the CISD2 gene (OMIM ) on chromosome 4q24.

WOLFRAM SYNDROME 1; WFS1 Is also known as diabetes insipidus and mellitus with optic atrophy and deafness|wfs|didmoad

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about WOLFRAM SYNDROME 1; WFS1

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20


Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20 Is also known as troyer syndrome|childhood-onset spastic paraparesis-distal muscle wasting syndrome|spastic paraparesis, childhood-onset, with distal muscle wasting|spg20|spastic paraplegia, autosomal recessive, troyer type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match OROFACIODIGITAL SYNDROME TYPE 1


Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.

OROFACIODIGITAL SYNDROME TYPE 1 Is also known as ofd1|papillon-lÉage-psaume syndrome|ofdsi|oral-facial-digital syndrome type 1|ofdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 1

Medium match TEMTAMY SYNDROME


Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

Medium match NIJMEGEN BREAKAGE SYNDROME


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

Medium match MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME


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

Medium match ASPARTYLGLUCOSAMINURIA; AGU


Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).

ASPARTYLGLUCOSAMINURIA; AGU Is also known as glycoasparaginase|aga deficiency|aspartylglucosaminidase deficiency|aspartylglycosaminuria|glycosylasparaginase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA; AGU

Medium match CARDIOFACIOCUTANEOUS SYNDROME


Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Medium match SIMPSON-GOLABI-BEHMEL SYNDROME


Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.

SIMPSON-GOLABI-BEHMEL SYNDROME Is also known as sgbs|sgbs1|simpson-golabi-behmel syndrome type 1|golabi-rosen syndrome|sdys|x-linked dysplasia gigantism syndrome|dysplasia gigantism syndrome, x-linked|simpson dysmorphia syndrome|dgsx|bulldog syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Hydronephrosis

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the skeletal system

Common Symptoms - More than 50% cases


Downslanted palpebral fissures

Uncommon Symptoms - Between 30% and 50% cases


Depressed nasal bridge Micrognathia Behavioral abnormality Nystagmus Short stature Cataract Low-set ears Abnormal facial shape Ptosis Blindness Anteverted nares Microcephaly Hernia Inguinal hernia Long philtrum Intellectual disability, severe Epicanthus Thrombocytopenia Scoliosis Clinodactyly of the 5th finger Optic atrophy Cardiomyopathy Coarse facial features Growth delay Short neck Telecanthus Frontal bossing Cleft palate Facial asymmetry Patent ductus arteriosus Psychosis Cryptorchidism Muscular hypotonia Hepatomegaly Dandy-Walker malformation Splenomegaly Atrial septal defect Short toe Ventriculomegaly Ventricular septal defect Macrocephaly Gait ataxia Wide nasal bridge Spasticity Abnormality of the dentition Brachydactyly Pectus excavatum Agenesis of corpus callosum Abnormal heart morphology Hydroureter Delayed speech and language development Overgrowth Dilatation Cognitive impairment Dysarthria Neoplasm Mental deterioration Multicystic kidney dysplasia Dysphagia Diarrhea Cerebral atrophy Dental malocclusion Webbed neck Constipation Progressive visual loss Relative macrocephaly Prominent nose Highly arched eyebrow Pulmonic stenosis Wide mouth Hypospadias Hoarse voice Upslanted palpebral fissure Sensorineural hearing impairment

Rare Symptoms - Less than 30% cases


Alopecia Nevus Narrow forehead Recurrent infections Ascites Thick vermilion border Retinal detachment Strabismus Hypertension Bulbous nose High palate High, narrow palate Intestinal malrotation Cerebral cortical atrophy Prominent forehead Posteriorly rotated ears Abnormal cardiac septum morphology Talipes equinovarus Sparse hair Unilateral renal agenesis Renal agenesis Convex nasal ridge Bilateral sensorineural hearing impairment Thick lower lip vermilion Abnormal palate morphology Aplasia/Hypoplasia of the corpus callosum Cafe-au-lait spot Chronic diarrhea Long face Congenital nystagmus Large for gestational age Enlarged kidney Cleft upper lip Leukemia Immunodeficiency Recurrent respiratory infections Hyperactivity Deep philtrum Dolichocephaly Finger syndactyly Cerebral visual impairment Dry skin Postaxial hand polydactyly Choanal atresia Abnormality of the face Penoscrotal hypospadias Brittle hair Chronic otitis media Open bite Hypoplasia of the zygomatic bone Intellectual disability, moderate Anal stenosis Neuroblastoma Myopia Abnormality of the hand Hypoplasia of the corpus callosum Congestive heart failure Absent speech Autism Emotional lability Lymphedema Macrotia Edema High forehead Umbilical hernia Delayed skeletal maturation Myoclonus Pollakisuria Kyphosis Low-set, posteriorly rotated ears Hypothyroidism Short nose Muscle weakness Flexion contracture Motor delay Depressivity Hyperreflexia Respiratory failure Hydrocephalus Cerebellar atrophy Wide nose Vesicoureteral reflux Abnormality of cardiovascular system morphology Sleep apnea Abnormal bleeding Macroglossia Neurodegeneration Proptosis Neurogenic bladder Erythema Aspiration Polyhydramnios Aggressive behavior Abnormality of the nervous system Anxiety Skeletal muscle atrophy Failure to thrive Intellectual disability, mild Genu valgum Short foot Oculomotor apraxia Midface retrusion Joint hypermobility Abnormality of the sternum Gliosis Recurrent urinary tract infections Cerebellar vermis hypoplasia Sparse eyebrow Nyctalopia Neurological speech impairment Widely spaced teeth Clinodactyly Visual impairment Tremor Irritability Sleep disturbance Camptodactyly Scarring Poor suck Abnormal heart valve morphology Redundant skin Hypoplastic frontal sinuses Failure to thrive in infancy Cranial asymmetry Long palpebral fissure Bilateral ptosis Abnormality of vision Hyperextensible skin Pleural effusion Scaling skin Aplasia/Hypoplasia of the eyebrow Spondylolysis Absent eyebrow Angiokeratoma corporis diffusum Obsessive-compulsive behavior Heart murmur Malnutrition Methemoglobinemia Oligosacchariduria Angiofibromas Angiokeratoma Aspartylglucosaminuria Neurodevelopmental delay Cubitus valgus Neurofibromas Melanocytic nevus Ectropion Infantile spasms Feeding difficulties Vomiting Multiple cafe-au-lait spots Hypertonia Abnormality of the cerebral white matter Abnormality of the eye Abnormality of the cardiovascular system Growth hormone deficiency Abnormality of the kidney Feeding difficulties in infancy Respiratory tract infection Pectus carinatum Pruritus Premature birth Nail dystrophy Hypermetropia Hypertrophic cardiomyopathy Full cheeks Abdominal distention Palmoplantar keratoderma Hypotrichosis Hepatic steatosis Astigmatism Ichthyosis Peripheral axonal neuropathy Abnormality of skin pigmentation Falls Retinal dystrophy Cardiomegaly EEG abnormality Palmoplantar hyperkeratosis Sparse eyelashes Malar flattening Encephalopathy Hyperhidrosis Hyperkeratosis Optic nerve hypoplasia Delayed gross motor development Gastroesophageal reflux Abnormality of the genitourinary system Hemangioma Bruising susceptibility Narrow palate Coarctation of aorta Abnormality of the nail Osteopenia Hyperpigmentation of the skin Thickened skin Decreased body weight Open mouth Inflammatory abnormality of the skin Hemiparesis Myocardial infarction Fine hair Low posterior hairline Cutis laxa Cavernous hemangioma Biparietal narrowing Preauricular pit Congenital hip dislocation Narrow palpebral fissure Accelerated skeletal maturation Abnormality of the voice Nephroblastoma Cupped ear Bilateral talipes equinovarus Preauricular skin tag Bundle branch block Supernumerary nipple Prolonged QT interval Vertebral segmentation defect Vertebral fusion Abnormality of digit Cardiac arrest Tall stature Transposition of the great arteries Hypoplasia of penis Short distal phalanx of finger Postaxial polydactyly Renal cyst Broad nasal tip Bifid uvula Nail dysplasia Congenital diaphragmatic hernia Renal dysplasia Abnormality of the ribs Small nail Omphalocele Clumsiness Abnormality of the genital system Broad thumb Broad palm Abnormal lung lobation Thin vermilion border Nephroblastomatosis Short 2nd finger Short sacroiliac notch Posterior helix pit 2-3 finger syndactyly Narrow sacroiliac notch Broad secondary alveolar ridge Birth length greater than 97th percentile Embryonal neoplasm Penoscrotal transposition Duplication of renal pelvis Six lumbar vertebrae Submucous cleft lip Cleft lower lip Cyst of the ductus choledochus Broad toe Hepatoblastoma Broad foot Abnormality of the helix Low hanging columella Polysplenia Diastasis recti Duodenal atresia Renal neoplasm Furrowed tongue Flared iliac wings Meckel diverticulum Aplasia/Hypoplasia of the abdominal wall musculature Ureteral duplication Ankyloglossia Increased IgE level Chordee Pancreatic islet-cell hyperplasia Cervical ribs Short palm Toe syndactyly Curly hair Abnormal mitral valve morphology Abnormality of the testis Delayed CNS myelination Abnormal myocardium morphology Abnormality of refraction Deep palmar crease Gastrointestinal dysmotility Slow-growing hair Dystrophic fingernails Thickened helices Subvalvular aortic stenosis Abnormal aortic valve morphology Hyperextensibility of the finger joints Abnormality of the pulmonary artery Excessive wrinkled skin Abnormality of the optic nerve Abnormal hair pattern Facial edema Abnormal eyelash morphology Generalized hyperpigmentation Submucous cleft hard palate Underdeveloped supraorbital ridges Poor appetite Atopic dermatitis Alopecia of scalp Arnold-Chiari type I malformation Thick upper lip vermilion Absent eyelashes Premature skin wrinkling Abnormality of the ulna Abnormality of the gastrointestinal tract Short attention span Woolly hair Abnormality of hair texture Multiple lentigines Congenital cataract Syndactyly Inappropriate crying Abnormality of the auditory canal Multiple palmar creases Eyelid fasciculation Multiple plantar creases Oral aversion Obesity Morphological abnormality of the gastrointestinal tract Arrhythmia Polydactyly Mandibular prognathia Hypoglycemia Cleft lip Camptodactyly of finger Cutaneous T-cell lymphoma Puberty and gonadal disorders Sparse or absent eyelashes Patchy alopecia Increased nuchal translucency Endocarditis Frontal balding Anterior creases of earlobe Abnormality of the optic disc Abnormal tricuspid valve morphology Optic nerve dysplasia Abnormal location of ears Hypoplasia of the frontal lobes Generalized ichthyosis Laryngeal cleft Functional abnormality of the gastrointestinal tract Tongue thrusting Hyperkeratosis pilaris Abnormality of the hairline Adenoma sebaceum Malar prominence Vacuolated lymphocytes Abnormality of brain morphology Proteinuria Elevated hepatic transaminase Renal insufficiency Dystonia Hyperplasia of midface Hyperextensible hand joints Morphea Suicidal ideation Narrow jaw Panic attack Knee clonus Abnormal hand morphology Abnormality of the nares Underdeveloped nasal alae Overbite Mood swings Upper limb spasticity Speech apraxia Spastic dysarthria Abnormality of the thumb Dysuria Upper limb muscle weakness Premature loss of teeth Ankle contracture Cerebellar vermis atrophy Scleroderma Ankle clonus Hypodontia Abnormality of dental enamel Hammertoe Accessory oral frenulum Iris coloboma Joint hyperflexibility Hip dislocation Corneal opacity Coloboma Pes planus Microphthalmia Odontogenic neoplasm Lip pit Tongue nodules Hamartoma of tongue Lobulated tongue Broad alveolar ridges Reduced bone mineral density Deviation of finger Pancreatic cysts Abnormality of the pancreas Abnormality of the skull Median cleft lip Exocrine pancreatic insufficiency Foot polydactyly Tarsal synostosis Milia Preaxial hand polydactyly Cone-shaped epiphysis Hand polydactyly Coarse hair Spastic diplegia Impaired vibratory sensation Esotropia Hypergonadotropic hypogonadism Central apnea Megaloblastic anemia Dyschromatopsia Severe sensorineural hearing impairment Atrophy/Degeneration affecting the brainstem Polyphagia Blurred vision Diabetes insipidus Abnormality of the urinary system Anosmia Leukoencephalopathy Type I diabetes mellitus Pigmentary retinopathy Testicular atrophy Dehydration Apnea Rigidity Weight loss Diabetes mellitus Hypogonadism Dementia Fatigue Peripheral neuropathy Molar tooth sign on MRI Cone/cone-rod dystrophy Apraxia Rod-cone dystrophy Stroke-like episode Histiocytosis Slurred speech Paraplegia Drooling Spastic paraparesis Clonus Spastic gait Hallucinations Progressive muscle weakness Lower limb spasticity Choreoathetosis Specific learning disability Abnormal cerebellum morphology Distal amyotrophy Dysmetria Lower limb muscle weakness Abnormality of the foot Central diabetes insipidus Spastic paraplegia Difficulty walking Kyphoscoliosis Pes cavus Babinski sign Limited mobility of proximal interphalangeal joint Impaired collagen-induced platelet aggregation Diffuse leukoencephalopathy Central sleep apnea Gastric ulcer Abnormal glucose tolerance Sideroblastic anemia Respiratory arrest Microcornea Intellectual disability, profound Visceromegaly Tented upper lip vermilion Macrothrombocytopenia Increased mean platelet volume Total anomalous pulmonary venous return Anomalous pulmonary venous return Protein-losing enteropathy Mild microcephaly Retinal dysplasia Abnormality of the periventricular white matter Pericardial effusion Overlapping toe Proximal placement of thumb Hypoalbuminemia Abnormal intestine morphology Flared nostrils Progressive microcephaly Exotropia Tapered finger Downturned corners of mouth Smooth philtrum Synophrys Short philtrum Thin upper lip vermilion Reduced visual acuity Cerebellar hypoplasia Progressive vitiligo Mastoiditis Dysgammaglobulinemia Intestinal lymphangiectasia Eversion of lateral third of lower eyelids Recurrent infection of the gastrointestinal tract Hydrops fetalis Abnormality of the ovary Spondylolisthesis Broad face Macroorchidism Beaking of vertebral bodies Dysostosis multiplex Palpebral edema Thickened calvaria Muscle fibrillation Pathologic fracture Acne Intellectual disability, progressive Gingival overgrowth Gait disturbance Involuntary movements Mitral regurgitation Progressive neurologic deterioration Neuronal loss in central nervous system Generalized myoclonic seizures Neutropenia Platyspondyly Developmental regression Joint laxity Hepatosplenomegaly Brachycephaly Visual loss Abnormality of metabolism/homeostasis Anorectal anomaly T-cell lymphoma Dental crowding Posterior staphyloma Amenorrhea Otitis media Lymphoma Hemolytic anemia Anal atresia Small for gestational age Prominent nasal bridge Attention deficit hyperactivity disorder Retrognathia Pneumonia Respiratory insufficiency Intrauterine growth retardation Short 2nd toe Cutaneous photosensitivity Scleral staphyloma Lop ear Lens luxation Short upper lip Colpocephaly Profound global developmental delay Hypoplasia of teeth Bowing of the legs Chorioretinal coloboma Aortic aneurysm Genu varum Aortic regurgitation Short chin Sloping forehead Primary amenorrhea B lymphocytopenia Autoimmune hemolytic anemia Decrease in T cell count Abnormal hair quantity Rhabdomyosarcoma Glioma Abnormality of chromosome stability Medulloblastoma Recurrent sinopulmonary infections B-cell lymphoma Recurrent bronchitis Abnormal eyelid morphology Acute leukemia Hearing abnormality Acute lymphoblastic leukemia Abnormality of the musculature Bronchiectasis Freckling Long nose Non-midline cleft lip Combined immunodeficiency Abnormality of neuronal migration Premature ovarian insufficiency Cachexia Recurrent pneumonia Low anterior hairline Lymphopenia Abnormality of the hair Sinusitis Telangiectasia Two carpal ossification centers present at birth



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Gliosis, related diseases and genetic alterations Immunodeficiency and Hypospadias, related diseases and genetic alterations Failure to thrive and Full cheeks, related diseases and genetic alterations Scoliosis and Craniosynostosis, related diseases and genetic alterations Generalized hypotonia and Meningitis, related diseases and genetic alterations Flexion contracture and Fatigue, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more