Immunodeficiency, and Spina bifida

Diseases related with Immunodeficiency and Spina bifida

In the following list you will find some of the most common rare diseases related to Immunodeficiency and Spina bifida 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

CAYLER CARDIOFACIAL SYNDROME Is also known as depressor anguli oris muscle, hypoplasia of|facial paresis, partial, unilateral|asymmetric crying facies|acf

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CAYLER CARDIOFACIAL 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

Other less relevant matches:

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

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006).Floating-Harbor syndrome (OMIM ), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (OMIM ), a coactivator for CREBBP. Genetic Heterogeneity of Rubinstein-Taybi SyndromeRubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2 ) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (OMIM ) on chromosome 22q13 (Bartsch et al., 2010).See also chromosome 16p13.3 deletion syndrome (OMIM ), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.

RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 Is also known as broad thumbs and great toes, characteristic facies, and mental retardation|rubinstein syndrome|rsts|broad thumb-hallux syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.

SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 1 Is also known as scan1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Neoplasm


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 1

Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.

LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY Is also known as mrxsarts|arts syndrome|mental retardation, x-linked, syndromic, arts type|mrxs18|mental retardation, x-linked, syndromic 18|ataxia, fatal x-linked, with deafness and loss of vision

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY

Top 5 symptoms//phenotypes associated to Immunodeficiency and Spina bifida

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Low-set ears

Uncommon Symptoms - Between 30% and 50% cases

Patent ductus arteriosus

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Behavioral abnormality

Common Symptoms - More than 50% cases

Abnormal heart morphology

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia

Common Symptoms - More than 50% cases

Ventricular septal defect

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis

Common Symptoms - More than 50% cases

Atrial septal defect

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Short neck Inguinal hernia Abnormality of cardiovascular system morphology Recurrent infections Thrombocytopenia Cleft palate Strabismus Neoplasm Hypospadias Failure to thrive Hydrocephalus Wide nasal bridge Hypertelorism Hypocalcemia Generalized hypotonia Cataract Flexion contracture Cognitive impairment Growth delay Schizophrenia Narrow mouth Abnormality of the pinna Epicanthus Truncus arteriosus High palate Bipolar affective disorder Ptosis Tetralogy of Fallot Anal atresia Attention deficit hyperactivity disorder Hypothyroidism Cryptorchidism Retrognathia Micrognathia Constipation Microphthalmia Iris coloboma Hypoparathyroidism Meningocele Seborrheic dermatitis Coarctation of aorta Hernia Sensorineural hearing impairment Autoimmunity Intrauterine growth retardation Cerebellar atrophy Downslanted palpebral fissures Depressivity Clinodactyly of the 5th finger Pes planus Thin upper lip vermilion Telecanthus Blepharophimosis Joint hyperflexibility Arteria lusoria Impaired T cell function Optic atrophy Vesicoureteral reflux Leukemia Nasal speech Specific learning disability Obesity Renal hypoplasia Low posterior hairline Delayed speech and language development Anemia Abnormality of the dentition Anal stenosis Purpura Bulbous nose Bicuspid aortic valve Myelomeningocele Underdeveloped nasal alae Conductive hearing impairment Cholelithiasis Umbilical hernia Intellectual disability, mild Posterior embryotoxon Depressed nasal bridge Arthritis Syndactyly Polydactyly Renal agenesis Acne Feeding difficulties in infancy Aganglionic megacolon

Rare Symptoms - Less than 30% cases

Bifid uvula Hemolytic anemia Right aortic arch Platybasia Perimembranous ventricular septal defect Chorea Interrupted aortic arch Vitiligo Graves disease Amenorrhea Primary amenorrhea Renal dysplasia Multicystic kidney dysplasia Holoprosencephaly Arnold-Chiari malformation Rheumatoid arthritis Duodenal stenosis Unilateral renal agenesis Aplasia of the uterus Inflammation of the large intestine Juvenile rheumatoid arthritis Axonal loss Autoimmune thrombocytopenia Psoriasiform dermatitis Short philtrum Retinal vascular tortuosity Convex nasal ridge Delayed skeletal maturation Pneumonia Prominent forehead EEG abnormality Joint laxity Low-set, posteriorly rotated ears Abnormal cardiac septum morphology Narrow chest Joint hypermobility Recurrent upper respiratory tract infections Postural instability Decreased antibody level in blood Abnormal form of the vertebral bodies Anteverted nares Otitis media Single transverse palmar crease Coloboma Abnormal palate morphology Postnatal growth retardation Intellectual disability, moderate Agenesis of corpus callosum Pectus excavatum Dysphagia Frontal bossing Hyperreflexia Overweight Respiratory insufficiency Hypertension Giant platelets Hypoplasia of the thymus Conotruncal defect Aplasia of the thymus Vascular ring Right aortic arch with mirror image branching Sacral meningocele Hydronephrosis Abnormality of the kidney Craniosynostosis Broad thumb Amblyopia Exotropia Tetany Talipes equinovarus Visual impairment Splenomegaly Long philtrum Glaucoma Autism Polyhydramnios Gastroesophageal reflux Intestinal malrotation Gastrointestinal hemorrhage Laryngomalacia Hand polydactyly Patellar dislocation Abnormal thrombocyte morphology Nasolacrimal duct obstruction Pulmonic stenosis Autoimmune hemolytic anemia Peripheral neuropathy High, narrow palate Bowel incontinence Abnormality of the thymus Ataxia Obsessive-compulsive behavior Short palm Cupped ear Severe T-cell immunodeficiency Foot polydactyly Cleft lip Finger syndactyly Smooth philtrum Areflexia Pyloric stenosis Highly arched eyebrow Premature birth Spina bifida occulta Oculomotor apraxia Nystagmus Choanal atresia Dental malocclusion Bowing of the long bones Long face Arachnodactyly Aggressive behavior Hip dislocation Deeply set eye Hypoplasia of the corpus callosum Posteriorly rotated ears Abnormality of the anus Fever Hyperlordosis Prominent nasal bridge Dental crowding Recurrent respiratory infections Hyperactivity Toe syndactyly Sensorimotor neuropathy Facial asymmetry Malar flattening Anxiety Motor delay Absent speech Visual loss Shawl scrotum Neuroblastoma Hyporeflexia Babinski sign Truncal obesity Congenital glaucoma Neurofibromas Elevated serum creatine phosphokinase Poor coordination Dislocated radial head Impaired distal proprioception Partial agenesis of the corpus callosum Self-mutilation Tethered cord Medulloblastoma Abnormal cornea morphology Global brain atrophy Rhabdomyosarcoma Broad distal phalanx of finger Phonophobia Sensory axonal neuropathy Avascular necrosis of the capital femoral epiphysis Facial grimacing Abnormality of the cervical spine Parietal foramina Steppage gait Short upper lip Bimanual synkinesia Pheochromocytoma Gaze-evoked nystagmus Obstructive sleep apnea Hypoplastic iliac wing Pain insensitivity Capillary hemangioma Spastic dysarthria Low hanging columella Cerebral cortical atrophy Spinocerebellar tract degeneration Short attention span Cerebellar vermis atrophy Meningioma Distal lower limb muscle weakness Dyslexia Flared iliac wings Abnormality of refraction Impaired vibration sensation in the lower limbs Delayed cranial suture closure Wide anterior fontanel Broad hallux Abnormal T cell morphology Susceptibility to chickenpox Flaring of lower rib cage Absent pubertal growth spurt Abnormality of humoral immunity Biconvex vertebral bodies Sparse facial hair Impaired lymphocyte transformation with phytohemagglutinin Metaphyseal dysostosis Non-Hodgkin lymphoma Long fibula Narrow vertebral interpedicular distance Abnormality of the distal phalanx of finger Hypoplastic anemia Increased urinary hypoxanthine Parietal cortical atrophy Abnormally ossified vertebrae Abnormal bone ossification Neonatal short-limb short stature Congenital hypoplastic anemia Spinal dysraphism Large face Hypersplenism Normocytic anemia Mucopolysacchariduria Abnormal diaphysis morphology Diaphyseal thickening Pulmonary lymphoma Muscle mounding Impulsivity Drooling Neonatal hypotonia Tetraplegia Narrow palate Progressive visual loss Low anterior hairline Prominent fingertip pads Cafe-au-lait spot Stereotypy Long eyelashes Hypoplasia of dental enamel Progressive muscle weakness Mitral regurgitation Prominent nose Respiratory distress Hypoplasia of the maxilla Recurrent fractures Decreased nerve conduction velocity Hirsutism Thick eyebrow Unsteady gait Respiratory tract infection Arnold-Chiari type I malformation Gout Low frustration tolerance Proptosis Pancreatic fibrosis Arrhythmia Frontal upsweep of hair Apraxia Duane anomaly Pachygyria Bone marrow hypocellularity Abnormality of chromosome stability Aplasia/Hypoplasia of the earlobes Aortic valve stenosis Labial hypoplasia Broad columella Abnormality of the head Leukodystrophy Short toe Sinusitis Short thumb Pancytopenia Azoospermia Long hallux Urethral stenosis U-Shaped upper lip vermilion Central hypothyroidism Clitoral hypoplasia Eczema Macular hypoplasia Dehydration Toe clinodactyly Microdontia Growth hormone deficiency Webbed neck Horseshoe kidney Nuclear cataract Bruising susceptibility Double outlet right ventricle Atrioventricular canal defect Hypoplastic left heart Slender finger Natal tooth Aplasia/Hypoplasia of the eyebrow Flat occiput Transposition of the great arteries Hammertoe Wheezing Heart murmur Abnormal eyelash morphology Chorioretinal coloboma Tachypnea Missing ribs Diastasis recti Retinal dysplasia Chronic constipation Eyelid coloboma Ectropion Duodenal atresia Ectopic anus Trigonocephaly Mitral stenosis Infantile muscular hypotonia Broad hallux phalanx Microcornea Tachycardia Keloids Papillary cystadenoma of the epididymis Gait ataxia Peripheral axonal neuropathy Plantar crease between first and second toes Distal amyotrophy Sensory neuropathy Progressive cerebellar ataxia Radial deviation of thumb terminal phalanx Brain atrophy Abnormal number of teeth High axial triradius Telangiectasia Enlarged tonsils Skeletal muscle atrophy Talon cusp Hypercholesterolemia Deviated nasal septum Premature thelarche Narrow maxilla Large foramen magnum Agoraphobia Bifid uterus Duplication of phalanx of hallux Hypoalbuminemia Dyscalculia Chorioretinal dystrophy Pes cavus Dysarthria Talipes Abnormality of the curvature of the vertebral column Dolichocephaly Annular pancreas Neurological speech impairment Small for gestational age Skin rash Camptodactyly Internal hemorrhage Bilateral camptodactyly Hypoglycemia Congenital thrombocytopenia Megakaryocyte dysplasia Osteopenia Pain High forehead Hypogonadism Osteoporosis Clinodactyly Cerebral atrophy Short nose Congestive heart failure Ventriculomegaly Macrocephaly Brachydactyly Feeding difficulties Spasticity Bronchiolitis Arrhinencephaly Metaphyseal cupping Absent fingernail Open mouth Psychosis Peripheral demyelination Dysmetria Congenital cataract Mental deterioration Dementia Intellectual disability, severe Asymmetric crying face Dermoid cyst Branchial fistula Body odor Absent toenail Narrow palpebral fissure Abnormality of earlobe Ankyloglossia Small face Tics Ulnar deviation of finger Preauricular pit Congenital contracture Language impairment Aortic aneurysm Hemangioma Aortic regurgitation Sandal gap Hallucinations Abnormality of the hand Congenital hip dislocation Velopharyngeal insufficiency Short palpebral fissure Polymicrogyria Astigmatism Generalized tonic-clonic seizures Microtia Hypertonia Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Congenital conductive hearing impairment Perineal fistula Central nervous system degeneration Psychotic episodes Paranoia Dysdiadochokinesis Mood swings Pulmonary artery atresia Abnormality of the endocrine system Echolalia Pierre-Robin sequence Delusions Hearing abnormality Submucous cleft hard palate Basal ganglia calcification Abnormality of the ear Myopathic facies Hypoplasia of the brainstem Apathy Coxa valga Pointed chin Anterior segment developmental abnormality Abnormality of the urinary system Calvarial skull defect Choanal stenosis Postaxial foot polydactyly Absent eyelashes Facial cleft Gonadal dysgenesis Aplasia/Hypoplasia of the thumb Cutaneous finger syndactyly Absent eyebrow Anophthalmia Clitoral hypertrophy Atresia of the external auditory canal Renal hypoplasia/aplasia Bicornuate uterus Cutaneous syndactyly Encephalocele Oligohydramnios Ambiguous genitalia Wide intermamillary distance Postaxial polydactyly Wide nose Pulmonary hypoplasia Cleft upper lip Corneal opacity Micropenis Blindness Abnormal cortical gyration Vaginal atresia Preauricular skin tag Lacrimal duct aplasia Recurrent urinary tract infections Interphalangeal joint contracture of finger Short distal phalanx of finger Facial palsy 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 Wide pubic symphysis Midline nasal groove Hypoplastic superior helix Gonadoblastoma Morphological abnormality of the middle ear Aplasia/Hypoplasia of the phalanges of the hand Laryngeal web Cryptophthalmos Cleft ala nasi Difficulty in tongue movements Urethral atresia Abnormality of the nares Upper eyelid coloboma Laryngeal stenosis Bilateral renal agenesis Subglottic stenosis Bilateral microphthalmos Sclerocornea Femoral hernia Cellular immunodeficiency Abnormality of retinal pigmentation Genu varum Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Sacral dimple Reduced tendon reflexes Neoplasm of the skin Accelerated skeletal maturation Sparse eyelashes Short ribs Lymphopenia Sparse and thin eyebrow Gingival overgrowth Rhizomelia Metaphyseal widening Abnormality of epiphysis morphology Bronchiectasis Abnormality of the metaphysis Depressed nasal ridge Fine hair Blue sclerae Lumbar hyperlordosis Abnormality of the ribs Lymphoma Hypopigmentation of the skin Neutropenia Small hand Portal hypertension Cone-shaped epiphysis Malabsorption Exocrine pancreatic insufficiency Metaphyseal chondrodysplasia Aplasia/Hypoplasia affecting the eye Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the pancreas Aplastic anemia B-cell lymphoma Generalized joint laxity Tracheal stenosis Fair hair Heart block Upper limb undergrowth Thrombocytosis Distal arthrogryposis Squamous cell carcinoma Esophageal atresia Hypoplasia of the odontoid process Hodgkin lymphoma Macrocytic anemia Metaphyseal dysplasia High hypermetropia Abnormality of the hip bone Tibial bowing Basal cell carcinoma Limited elbow extension Femoral bowing Mesomelia Short thorax Micromelia Hypotrichosis Alcoholism Abnormality of dental enamel Abnormal eyelid morphology Abnormality of the skull Multiple renal cysts Turricephaly Abnormal lung lobation Hyperthyroidism Dysphasia Chronic otitis media Overfolded helix Abnormality of the thorax Polycystic kidney dysplasia Hypopigmented skin patches Asthma Atelectasis Carious teeth Myalgia Upslanted palpebral fissure Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Accommodative esotropia Esophoria Vascular tortuosity Abnormality of the middle ear Perisylvian polymicrogyria Varicose veins Chronic obstructive pulmonary disease Arthrogryposis multiplex congenita Myopia Pectus carinatum Sparse hair Carcinoma Skeletal dysplasia Macrotia Brachycephaly Severe short stature Alopecia Dilatation Diarrhea Cardiomyopathy Abnormality of the skeletal system Hepatomegaly Abnormality of the uterus Occipital myelomeningocele Abnormality of the tonsils Tricuspid atresia Multiple suture craniosynostosis Abnormal aortic arch morphology Hypertensive crisis Retinal arteriolar tortuosity Anorectal anomaly Abnormal pulmonary valve morphology Small earlobe Abnormality of the pharynx Abnormal aortic valve morphology Corneal neovascularization Spinal cord posterior columns myelin loss


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