Rod-cone dystrophy, and Carious teeth

Diseases related with Rod-cone dystrophy and Carious teeth

In the following list you will find some of the most common rare diseases related to Rod-cone dystrophy and Carious teeth that can help you solving undiagnosed cases.


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High match USHER SYNDROME TYPE 2


Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes (Eudy et al., 1998).See {276900} for clinical characterization of Usher syndrome types I, II, and III.For a discussion of genetic heterogeneity of Usher syndrome type II, see USH2A (OMIM ).

USHER SYNDROME TYPE 2 Is also known as ush2

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about USHER SYNDROME TYPE 2

High match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

High match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

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Other less relevant matches:

Medium match JALILI SYNDROME


Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI; see this term) and cone-rod retinal dystrophy (CORD; see this term).

JALILI SYNDROME Is also known as cone rod dystrophy-amelogenesis imperfecta syndrome|cone-rod dystrophy and amelogenesis imperfecta

Related symptoms:

  • Nystagmus
  • Visual impairment
  • Optic atrophy
  • Blindness
  • Abnormality of the dentition


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about JALILI SYNDROME

Medium match EEM SYNDROME


EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).

EEM SYNDROME Is also known as eem syndrome|ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome

Related symptoms:

  • Strabismus
  • Abnormality of the dentition
  • Syndactyly
  • Abnormality of the eye
  • Camptodactyly


SOURCES: ORPHANET OMIM MENDELIAN

More info about EEM SYNDROME

Low match FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITH SEVERE OCULAR INVOLVEMENT


Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.

FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITH SEVERE OCULAR INVOLVEMENT Is also known as meier-blumberg-imahorn syndrome|fhhnc with severe ocular involvement|hypercalciuria-bilateral macular coloboma syndrome|hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement|macular coloboma, bilateral, with hyperc

Related symptoms:

  • Nystagmus
  • Visual impairment
  • Myopia
  • Renal insufficiency
  • Hernia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITH SEVERE OCULAR INVOLVEMENT

Low match USHER SYNDROME TYPE 1


Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (OMIM ) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3 ) have progressive hearing loss. Genetic Heterogeneity of Usher Syndrome Type IUSH type I is genetically heterogeneous. USH1C (OMIM ), the 'Acadian variety,' is caused by mutation in harmonin (OMIM ), on 11p15. USH1D (OMIM ) is caused by mutation in the cadherin-23 (CDH23 ) on 10q21. USH1F (OMIM ) is caused by mutation in the protocadherin-15 (PCDH15 ) on 10q22. USH1G (OMIM ) is caused by mutation in the SANS gene (OMIM ), on 17q25. USH1E (OMIM ) maps to 21q21, and USH1H (OMIM ) maps to 15q22-q23. USH1J (OMIM ) is caused by mutation in the CIB2 gene (OMIM ) on 15q24. USH1K (OMIM ) maps to chromosome 10p11.21-q21.1.A form of USH type I in which affected members carried heterozygous mutations in both CDH23 and PCDH15 has been reported (USH1D/F; see {601067}), thus supporting a digenic model for some individuals with this phenotype.Gerber et al. (2006) presented evidence that the form of USH1 previously called USH1A, or the 'French variety,' and mapped to chromosome 14 does not in fact exist; mutations in the MYO7A gene were found in most of these families, and in others the phenotype was found to map to other loci.Ahmed et al. (2003) reviewed the molecular genetics of Usher syndrome and indicated that at least 12 loci had been identified as underlying the 3 different clinical subtypes.

USHER SYNDROME TYPE 1 Is also known as ush1|retinitis pigmentosa and congenital deafness|us1

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about USHER SYNDROME TYPE 1

Low match PERRAULT SYNDROME


Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.

PERRAULT SYNDROME Is also known as ovarian dysgenesis with sensorineural deafness|gonadal dysgenesis, xx type, with deafness|xx gonodal dysgenesis-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERRAULT SYNDROME

Low match CRANIOECTODERMAL DYSPLASIA 3; CED3


Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Short stature
  • Micrognathia
  • Brachydactyly
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 3; CED3

Low match SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A


The hereditary spastic paraplegias are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of Fink et al. (1996) and Fink (1997).SPG is classified according to both the mode of inheritance (autosomal dominant, autosomal recessive (see {270800}), and X-linked (see {303350})) and whether progressive spasticity occurs in isolation ('uncomplicated SPG') or with other neurologic abnormalities ('complicated SPG'), including optic neuropathy, retinopathy, extrapyramidal disturbance, dementia, ataxia, ichthyosis, mental retardation, and deafness. The major neuropathologic feature of autosomal dominant, uncomplicated SPG is axonal degeneration that is maximal in the terminal portions of the longest descending and ascending tracts (crossed and uncrossed corticospinal tracts to the legs and fasciculus gracilis, respectively). Spinocerebellar fibers are involved to a lesser extent. Since the description of 'pure' hereditary spastic paraparesis of late onset by Strumpell (1904), many 'complicated' forms of the disorder have been reported and the question as to whether a 'pure' form exists has been raised off and on. Probably in large part because of their exceptional length, the pyramidal tracts are unusually vulnerable to both acquired and genetic derangement. Although a majority of reported families have displayed recessive inheritance, 10 to 30% of families have a dominant pattern and in fact recessive inheritance of a 'pure' spastic paraplegia may be rare. Genetic Heterogeneity of Autosomal Dominant Spastic ParaplegiaIn addition to SPG3A, other forms of autosomal dominant spastic paraplegia for which the molecular basis is known include SPG4 (OMIM ), caused by mutation in the SPAST gene (OMIM ) on 2p22; SPG6 (OMIM ), caused by mutation in the NIPA1 gene (OMIM ) on 15q11; SPG8 (OMIM ), caused by mutation in the KIAA0196 gene (OMIM ) on 8q24; SPG9A (OMIM ), caused by mutation in the ALDH18A1 gene (OMIM ) on 10q24; SPG10 (OMIM ), caused by mutation in the KIF5A gene (OMIM ) on 12q13; SPG12 (OMIM ), caused by mutation in the RTN2 gene (OMIM ) on 19q13; SPG13 (OMIM ), caused by mutation in the SSPD1 gene (OMIM ) on 2q33.1; SPG31 (OMIM ), caused by mutation in the REEP1 gene (OMIM ) on 2p11; SPG33 (OMIM ), caused by mutation in the ZFYVE27 gene (OMIM ) on 10q24; SPG72 (OMIM ), caused by mutation in the REEP2 gene (OMIM ) on 5q31; and SPG73 (OMIM ), caused by mutation in the CPT1C gene (OMIM ) on 19q13.Autosomal dominant spastic paraplegia has been mapped to chromosomes 9q (SPG19 ), 1p31-p21 (SPG29 ), 12q23-q24 (SPG36 ), 8p21.1-q13.3 (SPG37 ), 4p16-p15 (SPG38 ), and 11p14.1-p11.2 (SPG41 ).

SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A Is also known as spg3|fsp1|strumpell disease|familial spastic paraplegia, autosomal dominant, 1

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A

Top 5 symptoms//phenotypes associated to Rod-cone dystrophy and Carious teeth

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Nyctalopia Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Blindness Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Rod-cone dystrophy and Carious teeth. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Visual loss

Uncommon Symptoms - Between 30% and 50% cases


Motor delay Short stature Intellectual disability Abnormality of retinal pigmentation Visual impairment Sensorineural hearing impairment Aplasia/Hypoplasia of the cerebellum Depressivity Peripheral neuropathy Cognitive impairment Cataract Renal insufficiency Abnormality of the dentition Infertility Retinopathy Optic atrophy Ophthalmoplegia Fatigue Short neck Nephropathy Delayed puberty Polyneuropathy Amelogenesis imperfecta Syndactyly Hyporeflexia Constipation Chronic kidney disease Macular degeneration Photophobia Peripheral axonal neuropathy Scoliosis Respiratory distress Vestibular dysfunction Anxiety Scotoma Hemianopia Schizophrenia Abnormality of dental enamel Abnormality of dental color Global developmental delay Hallucinations Progressive visual loss Cerebral cortical atrophy

Rare Symptoms - Less than 30% cases


Hirsutism Hypogonadotrophic hypogonadism Nephrocalcinosis Growth abnormality Hyperkinesis Confusion Goiter Mutism Spasticity Pancreatitis Ichthyosis Intellectual disability, mild Pes cavus Urinary urgency Generalized hirsutism Cone/cone-rod dystrophy Abnormality of the nervous system Sensory neuropathy Clonus Bilateral ptosis Anorexia Left ventricular hypertrophy Involuntary movements Psychosis Pulmonary arterial hypertension Nausea Type II diabetes mellitus Pigmentary retinopathy Amenorrhea Specific learning disability Hypercalciuria Pendular nystagmus Clumsiness Peripheral visual field loss Pneumonia Polydactyly Pallor Decreased liver function Sparse hair Retinal atrophy Hypotrichosis Sinusitis Pulmonic stenosis Recurrent urinary tract infections Dry skin Poor coordination Stage 5 chronic kidney disease Optic disc pallor Cirrhosis Hepatic fibrosis Achromatopsia Tapetoretinal degeneration Taurodontia Progressive sensorineural hearing impairment Urinary incontinence Glomerulopathy Widely spaced teeth Ectodermal dysplasia Abnormality of the eye Increased body weight Horizontal nystagmus Obesity Posterior subcapsular cataract Tubulointerstitial nephritis Retinal pigment epithelial atrophy Abnormal cochlea morphology Severe sensorineural hearing impairment Strabismus Delayed speech and language development Dysmetria Impaired vibratory sensation Tremor Seizures Iris hypopigmentation Subcortical cerebral atrophy Osteoporosis Hypogonadism Encephalopathy Areflexia Abnormality of the liver Pain Diabetes mellitus Dystonia Proteinuria Vomiting Growth delay Cerebellar atrophy Failure to thrive Abdominal pain Weight loss Muscle weakness Gait ataxia Mental deterioration Abnormal electroretinogram Myalgia Kyphosis Hepatomegaly Hypothyroidism Cerebellar hypoplasia Respiratory insufficiency Dyspnea Autism Dysarthria Hyperreflexia Myopia Generalized tonic-clonic seizures Dilated cardiomyopathy Congestive heart failure Dementia Ptosis Gastroesophageal reflux Hypertension Microdontia Feeding difficulties Jaundice Myoclonus Cardiomyopathy Gait disturbance Urinary retention Hand polydactyly Poor fine motor coordination Arteriosclerosis Elevated C-reactive protein level Tubulointerstitial fibrosis Testicular atrophy Abnormal left ventricle morphology Abnormal renal physiology Disinhibition Endocardial fibroelastosis Abnormal renal morphology Menstrual irregularities Pyelonephritis Sandal gap Chills Abnormal spermatogenesis Urethral obstruction Squared iliac bones Renovascular hypertension Albuminuria Abnormal muscle tone Female hypogonadism Impaired temperature sensation Urethral stricture Abnormal chorioretinal morphology Epigastric pain Lumbar scoliosis Abnormality of the urethra Chronic infection Decreased glomerular filtration rate Acute pancreatitis Abnormality of the optic disc First degree atrioventricular block Melena Hematemesis Frontal balding Increased total bilirubin Vertical nystagmus Bull's eye maculopathy Spastic paraparesis Multinodular goiter Abnormality of female external genitalia Hepatic encephalopathy Urethral stenosis Cerebral palsy Myocardial fibrosis Postural tremor Agenesis of permanent teeth Hypoventilation Neurogenic bladder Degeneration of the lateral corticospinal tracts Autoimmune thrombocytopenia Thoracic scoliosis Pericarditis Subcapsular cataract Increased number of teeth Hyperuricemia Bronchitis Glycosuria Short finger Insulin-resistant diabetes mellitus Polyphagia Chorioretinal atrophy Pericardial effusion Abnormal retinal morphology Truncal obesity Hydroureter Pulmonary fibrosis Emphysema Polyuria Glucose intolerance Diabetes insipidus Hyperglycemia Distal lower limb amyotrophy Urinary bladder sphincter dysfunction Decreased HDL cholesterol concentration Myocarditis Axonal degeneration Ovarian cyst Progressive spasticity High-frequency hearing impairment Restrictive cardiomyopathy Esophageal varix Chronic obstructive pulmonary disease Chronic fatigue Hypoplastic male external genitalia Male hypogonadism Oligospermia Tubular atrophy Alopecia of scalp Recurrent bronchitis Acute hepatic failure Impaired vibration sensation in the lower limbs Elevated serum creatinine Right ventricular hypertrophy Attenuation of retinal blood vessels Gingivitis Ketoacidosis Broad foot Optic neuropathy Oligomenorrhea Hyperventilation Abnormality of the pituitary gland Hyperostosis frontalis interna Hepatic necrosis Talipes equinovarus Increased circulating gonadotropin level Gonadal dysgenesis Secondary amenorrhea Hypoplasia of the corpus callosum Spastic diplegia Babinski sign Paralysis Hammertoe Sensorimotor neuropathy Spastic paraplegia Primary amenorrhea Abnormality of the cerebral white matter Limb muscle weakness Paraplegia Flexion contracture High palate Abnormal facial shape Absent vestibular function Vestibular hypofunction Undetectable electroretinogram Chronic sinusitis Severe hearing impairment High hypermetropia Decreased fertility Progressive hearing impairment Bronchiectasis Hyperostosis Hypermagnesiuria Decreased serum testosterone level Titubation Macular coloboma Narrow chest Rhizomelia Nephronophthisis Scaphocephaly Cholestasis Hypoplasia of teeth Fine hair Sagittal craniosynostosis Postaxial hand polydactyly Peripheral pulmonary artery stenosis Limb undergrowth Everted lower lip vermilion Postaxial polydactyly Toe syndactyly Craniosynostosis 3-4 toe syndactyly Joint laxity Telecanthus Abnormality of the skeletal system Frontal bossing Macrocephaly Short nail Bilateral postaxial polydactyly Brachydactyly Broad nail Micrognathia Internuclear ophthalmoplegia Limited extraocular movements Progressive peripheral neuropathy Renal magnesium wasting Abnormality of calcium-phosphate metabolism Chronic hepatic failure Thickened ears Abnormality of the femoral head Vitreous haze Localized hirsutism Abnormality of renal calyx morphology Abnormality of prothrombin EEG with occipital slowing Precocious puberty in females Abnormal retinal artery morphology Widely-spaced incisors Recurrent cystitis Glue ear Unilateral breast hypoplasia Dilatation of the bladder Paraparesis Abnormality of color vision Granular macular appearance Receptive language delay Cutis laxa Chronic active hepatitis Abnormal adipose tissue morphology Nonproductive cough Exudative retinopathy Increased circulating androgen level High-frequency sensorineural hearing impairment Childhood-onset truncal obesity Multifocal atrial tachycardia ST segment depression Facial hirsutism Open bite Macular atrophy Hypomagnesemia Abnormality of dental morphology Severe vision loss Chorioretinal coloboma Nephrolithiasis Hematuria Umbilical hernia Inguinal hernia Hernia Selective tooth agenesis Ectrodactyly Sparse body hair Macular dystrophy Lower limb muscle weakness Absent eyebrow Abnormality of vision Spastic gait Tetraplegia Sparse eyelashes Joint contracture of the hand Sparse and thin eyebrow Split hand Sparse scalp hair Finger syndactyly Camptodactyly Spastic tetraplegia Choriocapillaris atrophy Monochromacy Anterior open bite Lower limb spasticity Renal calcium wasting Autistic behavior Acne Cachexia Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Intestinal obstruction Personality changes Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Hemiplegia Decreased nerve conduction velocity Atrioventricular block Overlapping toe Easy fatigability Hypopigmented skin patches Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Purpura Exercise intolerance Type I diabetes mellitus EMG abnormality Truncal ataxia Cardiac arrest Cerebral visual impairment Abnormality of neuronal migration Adrenal insufficiency Decreased body weight Distal arthrogryposis Delusions Transient ischemic attack Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Heart block Xerostomia Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Atopic dermatitis Drowsiness Pulmonary embolism Bundle branch block Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Rhabdomyolysis Hyperthyroidism Basal ganglia calcification Vertebral fusion Multiple lipomas Prolonged QT interval Visual field defect Hyperkalemia Dysphasia Aphasia Gingival overgrowth Hypertrichosis Facial diplegia Cerebral atrophy Attention deficit hyperactivity disorder Erythema Protruding ear Abnormality of the pinna Developmental regression Feeding difficulties in infancy Apnea Hypertrophic cardiomyopathy EEG abnormality Acidosis Delayed skeletal maturation Elevated serum creatine phosphokinase Arrhythmia Headache Neurological speech impairment Hypertonia Diarrhea Myopathy Ventriculomegaly Dysphagia Skeletal muscle atrophy Fever Anemia Muscular hypotonia Hypertelorism Microcephaly Abnormality of the inner ear Mild hearing impairment Stroke Pruritus Hemiparesis Sudden cardiac death Atrial fibrillation Ventricular hypertrophy Status epilepticus Nephrotic syndrome Bilateral sensorineural hearing impairment Generalized-onset seizure Abnormality of the cardiovascular system Cerebral calcification Hip dysplasia Memory impairment Increased serum lactate Migraine Sensory impairment Generalized myoclonic seizures Lethargy Abnormal cerebellum morphology Muscle cramps Postural instability Coma Polymicrogyria Lactic acidosis Vertigo Paresthesia Anal atresia Malabsorption Nausea and vomiting Congenital cataract Arthrogryposis multiplex congenita Cardiorespiratory arrest Aortic dissection Constriction of peripheral visual field Retinal dystrophy Cyanosis Decreased testicular size Otitis media Growth hormone deficiency Gastrointestinal hemorrhage Round face Vesicoureteral reflux Asthma Abdominal distention Ascites Sleep disturbance Hepatic steatosis Hepatic failure Cardiomegaly Tachycardia Lymphadenopathy Retinal degeneration Hypermetropia Cough Scarring Respiratory tract infection Postnatal growth retardation Irritability Abnormality of the kidney Conductive hearing impairment Elevated hepatic transaminase Deeply set eye Hepatitis Epidermal acanthosis Pes planus Hypercholesterolemia Obsessive-compulsive behavior Chronic otitis media Nephritis Polydipsia Portal hypertension Lipodystrophy Hyperinsulinemia Precocious puberty Elevated alkaline phosphatase Cholelithiasis Abnormality of the hand Polycystic ovaries Tachypnea Hyperlipidemia Hypertriglyceridemia Atherosclerosis Acanthosis nigricans Accelerated skeletal maturation Absence seizures Recurrent pneumonia Hypergonadotropic hypogonadism Short toe Gynecomastia Hyperpigmentation of the skin Insulin resistance Chronic diarrhea Thickened skin Recurrent otitis media Hepatosplenomegaly Kyphoscoliosis Renal tubular dysfunction Abnormality of the renal tubule Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Gastroparesis Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Ileus Tubulointerstitial abnormality Proximal tubulopathy Abnormality of peripheral nerve conduction Speech apraxia Left ventricular failure Seborrheic dermatitis Stroke-like episode Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Cerebral ischemia Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Renal Fanconi syndrome Psychotic episodes Hyperkeratosis Episodic quadriplegia Respiratory failure Hyperhidrosis Recurrent respiratory infections Alopecia Patent ductus arteriosus Clinodactyly Dilatation Splenomegaly Behavioral abnormality Prominent ear helix Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Abnormality of acid-base homeostasis Abnormality of the cerebellar vermis Homonymous hemianopia Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Long-tract signs



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