Dysarthria, and Vesicoureteral reflux

Diseases related with Dysarthria and Vesicoureteral reflux

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

Top matches:

Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart is an autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. About half of patients have additional abnormalities, most commonly involving the eye, heart, and genitourinary system. The phenotype is reminiscent of that observed in patients with 1p36 deletion syndrome (OMIM ); RERE is located in the proximal 1p36 critical region (summary by Fregeau et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH

Hypotonia, ataxia, and delayed development syndrome (HADDS) is a neurodevelopmental syndrome characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. Some patients may have urogenital abnormalities (summary by Sleven et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS

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

Other less relevant matches:

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

High match WILLIAMS SYNDROME

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION Is also known as kleefstra syndrome due to del(9)(q34)|9q subtelomeric deletion syndrome|kleefstra syndrome due to 9q subtelomeric deletion|kleefstra syndrome due to monosomy 9q34|9qstds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION

CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most patients have global developmental delay (summary by Heidet et al., 2017 and Slavotinek et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED

Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges.

MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME Is also known as mic-cap syndrome|microcephaly-cutaneous capillary malformation syndrome|mic-cm syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME

Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).

ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY Is also known as isolated succinate-ubiquinone reductase deficiency|isolated succinate-coenzyme q reductase deficiency|isolated mitochondrial respiratory chain complex ii deficiency|succinate coq reductase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY

Multiple congenital anomalies-hypotonia-seizures syndrome is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age (summary by Maydan et al., 2011). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (OMIM ). Genetic Heterogeneity of Multiple Congenital Anomalies-Hypotonia-Seizures SyndromeMCAHS2 (OMIM ) is caused by mutation in the PIGA gene (OMIM ) on chromosome Xp22, and MCAHS3 (OMIM ) is caused by mutation in the PIGT gene (OMIM ) on chromosome 20q13.Knaus et al. (2018) provided a review of the main clinical features of the different types of MCAHS, noting that patients with mutations in the PIGN, PIGA, and PIGT genes have distinct patterns of facial anomalies that can be detected by computer-assisted comparison. Some individuals with MCAHS may have variable increases in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between MCAHS and HPMRS1 (OMIM ), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified together under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME Is also known as congenital disorder of glycosylation due to pign deficiency|glycosylphosphatidylinositol biosynthesis defect 3|pign-cdg|gpibd3

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME

Top 5 symptoms//phenotypes associated to Dysarthria and Vesicoureteral reflux

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

Other less frequent symptoms

Patients with Dysarthria and Vesicoureteral reflux. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Epicanthus

Common Symptoms - More than 50% cases

Anteverted nares

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears

Common Symptoms - More than 50% cases

Feeding difficulties

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism

Common Symptoms - More than 50% cases

Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Gastroesophageal reflux Autism Ataxia Ptosis Delayed speech and language development Behavioral abnormality Abnormal facial shape Optic atrophy Short nose Abnormal cardiac septum morphology Strabismus Micrognathia Depressivity Dysphagia Cerebral atrophy Posteriorly rotated ears Hypoplasia of the corpus callosum Ventricular septal defect Spasticity Nystagmus Hypertonia Ventriculomegaly Hydronephrosis Myoclonus Constipation Cleft palate Tremor Cardiomyopathy Aggressive behavior Cataract Cognitive impairment Blindness Anxiety Hypertrophic cardiomyopathy Open mouth Inguinal hernia Atrial septal defect Macrocephaly Long philtrum Depressed nasal bridge Hernia Muscular hypotonia Scoliosis Cerebral cortical atrophy Coarctation of aorta Macrotia Coarse facial features Wide nasal bridge Abnormality of the kidney Irritability Sleep disturbance Abnormality of the urinary system Narrow forehead Hyperreflexia Congestive heart failure Micropenis Abnormal heart morphology Deep philtrum High forehead Thin upper lip vermilion Neonatal hypotonia Muscular hypotonia of the trunk Synophrys Autistic behavior Long face Low-set, posteriorly rotated ears Downturned corners of mouth Neurological speech impairment Delayed myelination Frontal bossing Downslanted palpebral fissures Visual impairment Absent speech Intrauterine growth retardation Renal insufficiency

Rare Symptoms - Less than 30% cases

Aortic valve stenosis Respiratory tract infection Renal hypoplasia Feeding difficulties in infancy Ventricular hypertrophy Hypoplasia of penis Scarring Splenomegaly Short distal phalanx of finger Pulmonic stenosis Genu valgum Kyphosis Mitral regurgitation Small nail Umbilical hernia Narrow face Osteopenia Recurrent urinary tract infections Polyhydramnios Patent foramen ovale Amblyopia Oligohydramnios Clinodactyly of the 5th finger Delayed skeletal maturation Spina bifida occulta Pectus excavatum Malar flattening Tetralogy of Fallot Myopathy Full cheeks Developmental regression Hypoplasia of the zygomatic bone Small for gestational age Abnormality of the testis Wide mouth Abnormality of refraction Thickened helices Intellectual disability, moderate Anal stenosis Subvalvular aortic stenosis Cleft lip Patent ductus arteriosus Obesity Right ventricular hypertrophy Midface retrusion Flexion contracture Arnold-Chiari type I malformation Everted lower lip vermilion Renal agenesis Hemiparesis Poor speech Dental malocclusion Motor delay Abnormality of the cardiovascular system Cardiomegaly Myocardial infarction Cutis laxa Long palpebral fissure Macroglossia Brachycephaly Redundant skin Failure to thrive in infancy Chronic otitis media Obsessive-compulsive behavior Open bite Increased nuchal translucency Thick vermilion border Abnormality of the dentition Hypothyroidism Cerebellar hypoplasia Prominent forehead Prominent nasal bridge Diabetes mellitus Respiratory failure Astigmatism Dysmetria Broad nasal tip Sensorineural hearing impairment Hydroureter Abnormality of the nervous system Sleep apnea Leukoencephalopathy Pigmentary retinopathy Dehydration Abnormal bleeding Abnormality of the genitourinary system Cerebellar atrophy Overfolded helix Pain Vomiting Diarrhea Short neck Myopia Dilatation High palate Blepharophimosis Thrombocytopenia Dementia Abnormal glucose tolerance Cerebral visual impairment Urethral stenosis Tubulointerstitial nephritis Abnormality of nervous system morphology Abnormality of the pinna Chronic constipation Blue irides Aplasia/Hypoplasia of the iris Vocal cord paralysis Phonophobia Down-sloping shoulders Patellar dislocation Multiple renal cysts Abnormality of the vasculature Anal atresia Thin vermilion border Flat face Stress/infection-induced lactic acidosis Renal duplication Colonic diverticula Pulmonary artery stenosis Pulmonary hypoplasia Large earlobe Abnormality of the neck Arterial stenosis Left ventricular systolic dysfunction Rectal prolapse Periorbital edema Peptic ulcer Cystic renal dysplasia Hyporeflexia Bladder diverticulum Retinal vascular tortuosity Thyroid hypoplasia Lacrimation abnormality Short foot Peripheral pulmonary artery stenosis Upslanted palpebral fissure Decreased plasma carnitine Periorbital fullness Dysgraphia Gait imbalance Cerebral ischemia Dyslexia Villous atrophy Parathyroid hyperplasia Enuresis Abnormality of the cerebral vasculature Abnormal endocardium morphology Abnormal renal morphology Choreoathetosis Poor coordination Infantile muscular hypotonia Hypercalcemia Cholelithiasis Hypercalciuria Cupped ear Dysphonia Polycystic ovaries Incoordination Abnormality of pelvic girdle bone morphology Adducted thumb Reduced bone mineral density Arnold-Chiari malformation Schizophrenia Ischemic stroke Precocious puberty Prominent occiput Sacral dimple Bicuspid aortic valve Cystic hygroma Widely spaced teeth Progressive hearing impairment Limb hypertonia Abnormal dermatoglyphics Hydrocele testis Vertical nystagmus Abnormality of the fingernails Hoarse cry Abnormality of dental enamel Radioulnar synostosis Portal hypertension Soft skin High hypermetropia Nevus flammeus Brain atrophy Focal-onset seizure Congenital diaphragmatic hernia Abnormality of the ankles Posterior embryotoxon Abnormality of lipid metabolism Megalocornea Insomnia Restlessness Facial cleft Prematurely aged appearance Celiac disease Abnormality of the voice Vertebral segmentation defect Tented upper lip vermilion Focal impaired awareness seizure Premature graying of hair Hallux valgus Loss of consciousness Polyuria Glucose intolerance Tracheoesophageal fistula Hypoplastic toenails Abnormality of dental morphology Unilateral renal agenesis Nephritis Vascular tortuosity Renal artery stenosis Tubulointerstitial abnormality Anteverted ears Wide nose Ragged-red muscle fibers Severe global developmental delay Clinodactyly Brachydactyly Decreased numbers of nephrons Bifid ureter Easy fatigability Oral-pharyngeal dysphagia Urethral valve Hypoplastic helices Uterus didelphys Hyperechogenic kidneys External ophthalmoplegia Poor eye contact Ectopic kidney Chronic kidney disease Horseshoe kidney Hemivertebrae Spina bifida Renal dysplasia Rhabdomyolysis Ambiguous genitalia Ketosis Stage 5 chronic kidney disease Preeclampsia Microtia Hypoplasia of the maxilla Exercise intolerance Cerebral cortical hemiatrophy Dilated cardiomyopathy Hemiclonic seizures Abnormal hair whorl Muscle weakness Dystonia Capillary malformation Arrhythmia Short 5th finger Babinski sign Acidosis Proximal muscle weakness Central hypotonia Cortical gyral simplification Retinopathy Spastic tetraparesis Sloping forehead Ophthalmoplegia Lactic acidosis Tetraplegia Generalized muscle weakness Short toe Generalized myoclonic seizures Progressive microcephaly Wide anterior fontanel Increased serum lactate Spastic tetraplegia Leukodystrophy Congenital hip dislocation Tetraparesis Respiratory insufficiency Ketonuria Overriding aorta Flat cornea Bilateral vocal cord paralysis Elfin facies Decreased activity of mitochondrial complex II Medial flaring of the eyebrow Abnormality of the diencephalon Abnormal carotid artery morphology Paroxysmal bursts of laughter Myxomatous mitral valve degeneration Unilateral renal hypoplasia Calcification of the aorta Impaired visuospatial constructive cognition Supravalvular aortic stenosis Abnormal mitochondria in muscle tissue Abnormal social behavior Nystagmus-induced head nodding Renovascular hypertension Abnormality of the gastric mucosa Infantile hypercalcemia Food intolerance Pelvic kidney Hyperacusis Retinal arteriolar tortuosity Coronary artery stenosis Abnormality of the bladder Synostosis of joints Nocturia Obsessive-compulsive trait Aortic arch aneurysm Thyroid hemiagenesis Overfriendliness Left ventricular noncompaction Mutism Paraganglioma Conotruncal defect Subcortical cerebral atrophy Femoral hernia Hemolytic-uremic syndrome Echolalia Epileptic spasms Protruding tongue Absent septum pellucidum Dysphasia Aphasia Flat occiput Apathy Aortic regurgitation Early onset of sexual maturation Increased intramyocellular lipid droplets Absence seizures Status epilepticus Specific learning disability Highly arched eyebrow Agenesis of corpus callosum Atrophy/Degeneration involving the corticospinal tracts Vocal cord dysfunction Descending aorta hypoplasia Functional abnormality of male internal genitalia Progressive leukoencephalopathy Stellate iris Dyssynergia Nephrocalcinosis Hyperkeratosis pilaris Hypogonadotrophic hypogonadism Hypotrichosis Palmoplantar keratoderma High, narrow palate Hepatic steatosis Retinal dystrophy Bruising susceptibility Bulbous nose Falls Joint hypermobility Abnormality of skin pigmentation Peripheral axonal neuropathy Ichthyosis Dry skin Hypermetropia Nevus Abnormality of the cerebral white matter Dolichocephaly Nail dystrophy Pruritus Leukemia Pectus carinatum Sparse hair Erythema Abnormality of the eye Telecanthus EEG abnormality Proptosis Hyperkeratosis Abdominal distention Intestinal malrotation Alopecia Sparse eyelashes Brittle hair Hyperextensible skin Poor suck Relative macrocephaly Abnormality of vision Palmoplantar hyperkeratosis Optic nerve hypoplasia Delayed gross motor development Hemangioma Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Oculomotor apraxia Narrow palate Premature birth Abnormality of the nail Aspiration Hyperpigmentation of the skin Lymphedema Cafe-au-lait spot Thickened skin Decreased body weight Inflammatory abnormality of the skin Fine hair Low posterior hairline Progressive visual loss Growth hormone deficiency Webbed neck Hyperhidrosis Encephalopathy Sparse eyebrow Delayed ability to walk Apnea Rigidity Weight loss Hypogonadism Fatigue Peripheral neuropathy Broad chin Overfolding of the superior helices Horizontal eyebrow Oval face Pain insensitivity Inverted nipples Myopathic facies Psychosis Poor head control Short chin Stereotypy Apraxia Decreased fetal movement Triangular face Deeply set eye Broad eyebrow Cerebellar vermis hypoplasia Coloboma Postnatal growth retardation Hypospadias Microphthalmia Neurodegeneration Hypergonadotropic hypogonadism Abnormality of cardiovascular system morphology Respiratory arrest Intellectual disability, severe Edema Hydrocephalus Hepatomegaly Neoplasm Limited mobility of proximal interphalangeal joint Impaired collagen-induced platelet aggregation Diffuse leukoencephalopathy Central sleep apnea Gastric ulcer Sideroblastic anemia Pollakisuria Central diabetes insipidus Type I diabetes mellitus Histiocytosis Testicular atrophy Stroke-like episode Neurogenic bladder Central apnea Megaloblastic anemia Dyschromatopsia Severe sensorineural hearing impairment Atrophy/Degeneration affecting the brainstem Polyphagia Blurred vision Diabetes insipidus Anosmia Bilateral ptosis Scaling skin Pointed chin Osteoporosis Craniosynostosis Joint stiffness Paralysis Protruding ear Hyperlordosis Joint laxity Proteinuria Pes planus Arthralgia Kyphoscoliosis Glaucoma Abdominal pain Recurrent respiratory infections Stroke Elevated serum creatine phosphokinase Intellectual disability, mild Respiratory distress Gait disturbance Hypertension Oral aversion Multiple plantar creases Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Attention deficit hyperactivity disorder Broad forehead Abnormal location of ears Mitral valve prolapse Increased body weight Increased bone mineral density Hoarse voice Gingival overgrowth Nephrolithiasis Involuntary movements Abnormal form of the vertebral bodies Recurrent otitis media Thick lower lip vermilion Type II diabetes mellitus Hypsarrhythmia Abnormality of extrapyramidal motor function Hypotelorism Corneal opacity Microdontia Otitis media Esotropia Chest pain Sudden cardiac death Hypodontia Postural instability Oral cleft Smooth philtrum Joint hyperflexibility Malabsorption Carious teeth Nausea and vomiting Puberty and gonadal disorders Abnormality of the hairline Pleural effusion Biparietal narrowing Abnormality of the ulna Premature skin wrinkling Absent eyelashes Enlarged kidney Abnormal eyelash morphology Alopecia of scalp Atopic dermatitis Poor appetite Underdeveloped supraorbital ridges Submucous cleft hard palate Generalized hyperpigmentation Curly hair Multiple cafe-au-lait spots Short attention span Abnormal heart valve morphology Abnormality of the sternum Infantile spasms Neurofibromas Neurodevelopmental delay Aplasia/Hypoplasia of the eyebrow Malnutrition Large for gestational age Absent eyebrow Heart murmur Cubitus valgus Melanocytic nevus Ectropion Abnormality of the gastrointestinal tract Woolly hair Tongue thrusting Cavernous hemangioma Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Abnormal tricuspid valve morphology Abnormality of the optic disc Anterior creases of earlobe Frontal balding Endocarditis Sparse or absent eyelashes Multiple lentigines Abnormality of hair texture Thick upper lip vermilion Excessive wrinkled skin Abnormality of the pulmonary artery Hyperextensibility of the finger joints Abnormal aortic valve morphology Slow-growing hair Abnormal mitral valve morphology Gastrointestinal dysmotility Deep palmar crease Abnormal myocardium morphology Delayed CNS myelination Abnormality of the optic nerve Dystrophic fingernails Abnormal hair pattern Large fleshy ears


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