Tremor, and Anal atresia

Diseases related with Tremor and Anal atresia

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

Top matches:

Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).

ACROCEPHALOPOLYDACTYLOUS DYSPLASIA Is also known as elejalde syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ACROCEPHALOPOLYDACTYLOUS DYSPLASIA

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

Medium 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

Other less relevant matches:

PCH11 is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging. Additional features are more variable (summary by Marin-Valencia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11

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

Low match FRYNS SYNDROME

Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.

FRYNS SYNDROME Is also known as diaphragmatic hernia, abnormal face, and distal limb anomalies|diaphragmatic hernia-abnormal face-distal limb anomalies syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FRYNS SYNDROME

Low match CHARGE SYNDROME

CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).

CHARGE SYNDROME Is also known as charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies|hhs|charge association|coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome|hall

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHARGE SYNDROME

Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal).

BETA-UREIDOPROPIONASE DEFICIENCY Is also known as beta-alanine synthase deficiency

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BETA-UREIDOPROPIONASE DEFICIENCY

Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.

DIHYDROPYRIMIDINURIA Is also known as dihydropyrimidinase deficiency|dph deficiency|dihydropyrimidinuria|dpys deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINURIA

HeterotaxyHeterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. Multiple Types of Congenital Heart DefectsCongenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by van de Meerakker et al., 2011). ReviewsObler et al. (2008) reviewed published cases of double-outlet right ventricle and discussed etiology and associations. Genetic Heterogeneity of Visceral HeterotaxySee also HTX2 (OMIM ), caused by mutation in the CFC1 gene (OMIM ) on chromosome 2q21; HTX3 (OMIM ), which maps to chromosome 6q21; HTX4 (OMIM ), caused by mutation in the ACVR2B gene (OMIM ) on chromosome 3p22; HTX5 (OMIM ), caused by mutation in the NODAL gene (OMIM ) on chromosome 10q22; HTX6 (OMIM ), caused by mutation in the CCDC11 gene (OMIM ) on chromosome 18q21; HTX7 (OMIM ), caused by mutation in the MMP21 gene (OMIM ) on chromosome 10q26; and HTX8 (OMIM ), caused by mutation in the PKD1L1 gene (OMIM ) on chromosome 7p12. Genetic Heterogeneity of Multiple Types of Congenital Heart DefectsAn X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26. CHTD2 (OMIM ) is caused by mutation in the TAB2 gene (OMIM ) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3 ) has been mapped to chromosome 9q31. CHTD4 (OMIM ) is caused by mutation in the NR2F2 gene (OMIM ) on chromosome 15q26. CHTD5 (OMIM ) is caused by mutation in the GATA5 gene (OMIM ) on chromosome 20q13. CHTD6 (OMIM ) is caused by mutation in the GDF1 gene (OMIM ) on chromosome 19p13.

HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1 Is also known as situs inversus, complex cardiac defects, and splenic defects, x-linked|laterality, x-linked|dextrocardia with other cardiac malformations

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cleft palate
  • Ventricular septal defect
  • Atrial septal defect


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1

Top 5 symptoms//phenotypes associated to Tremor and Anal atresia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Tremor and Anal atresia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Short neck Atrial septal defect Abnormality of the pinna Cleft palate Muscular hypotonia Ventriculomegaly Hernia Bifid scrotum Scoliosis Renal dysplasia Hypertonia Ventricular septal defect Vesicoureteral reflux Polyhydramnios Patent ductus arteriosus Cerebellar hypoplasia Abnormality of cardiovascular system morphology Gastroesophageal reflux Nystagmus Renal agenesis Hydrocephalus Abnormal facial shape Attention deficit hyperactivity disorder Broad neck Anal stenosis Interrupted aortic arch Micrognathia Intellectual disability, severe Strabismus High palate Hypothyroidism Anteverted nares Hypoplasia of the corpus callosum Talipes equinovarus Cerebellar atrophy Long philtrum Hyporeflexia Short distal phalanx of finger Dandy-Walker malformation Feeding difficulties in infancy Hydronephrosis Cleft lip Cystic hygroma Polysplenia Holoprosencephaly Pulmonic stenosis Specific learning disability Hypospadias Pulmonary hypoplasia Blindness Spasticity Low-set ears Feeding difficulties Growth delay Duodenal atresia Recurrent respiratory infections Dysphagia Epicanthus Optic atrophy Tetralogy of Fallot Failure to thrive Abnormal cardiac septum morphology Ataxia Omphalocele Delayed speech and language development Multicystic kidney dysplasia Abnormal heart morphology Retrognathia Short stature Hearing impairment

Rare Symptoms - Less than 30% cases

Protruding ear Depressivity Mental deterioration Respiratory insufficiency Apnea Visual loss Respiratory distress Anxiety Arrhythmia Double outlet right ventricle Photophobia Truncus arteriosus Areflexia Psychotic episodes Dementia Myelomeningocele Diarrhea Gastroparesis Myoclonus Pulmonary artery atresia Hypogonadism Dystonia Autism Cerebral cortical atrophy Acidosis Aplasia/Hypoplasia of the cerebellum Neurological speech impairment Hallucinations Status epilepticus Psychosis Small nail Choanal atresia Abnormality of immune system physiology Short thumb Bilateral choanal atresia Basal ganglia calcification Arrhinencephaly Vitiligo Abnormality of the outer ear Hypogonadotrophic hypogonadism Purpura Anophthalmia Vestibular dysfunction Schizophrenia Asplenia Mask-like facies Intestinal malrotation Hypoparathyroidism Lethargy Microphthalmia Congenital cataract Cryptorchidism Plagiocephaly Delayed puberty Dysmetria Seborrheic dermatitis Abnormality of the skeletal system Anterior hypopituitarism Fever Amenorrhea Reduced consciousness/confusion Dilatation Clinodactyly of the 5th finger Low-set, posteriorly rotated ears Abnormality of the eye Delusions Cleft upper lip Hip dysplasia Skeletal muscle atrophy Esophageal atresia Dysarthria Cerebral atrophy Cystic renal dysplasia Abnormality of the cerebellar vermis Dyskinesia Depressed nasal bridge Hyperreflexia Macrocephaly Absent speech Immunodeficiency Posteriorly rotated ears Coarse facial features Neonatal hypotonia Wide mouth Prominent nasal bridge Bulbous nose Talipes Behavioral abnormality Hemivertebrae Coloboma Blepharophimosis Hepatomegaly Brachydactyly Edema Short nose Upslanted palpebral fissure Respiratory failure Postaxial polydactyly Narrow palpebral fissure Hypocalcemia Limb undergrowth Conductive hearing impairment Renal hypoplasia Depressed nasal ridge Abnormality of the face Umbilical hernia Brain atrophy Obsessive-compulsive behavior Congenital diaphragmatic hernia Anemia Agenesis of corpus callosum Hyperactivity Cupped ear Overfolded helix Sensorineural hearing impairment Cataract Abnormality of the nervous system Ptosis Cognitive impairment Tented upper lip vermilion Abnormality of the urinary system Amblyopia Open mouth Respiratory tract infection Motor delay Aplasia of the uterus Abnormality of the endocrine system Submucous cleft hard palate Aganglionic megacolon Partial agenesis of the corpus callosum Thin ribs Heterotopia Juvenile rheumatoid arthritis Non-midline cleft lip Intellectual disability, profound Autoimmune thrombocytopenia Graves disease Bicuspid aortic valve Coarctation of aorta Hypoplastic nipples Wide intermamillary distance Premature birth Atrophy/Degeneration affecting the brainstem Joint contracture of the hand Opacification of the corneal stroma Echolalia Pierre-Robin sequence Low posterior hairline Hypoplasia of the uterus Thoracic hypoplasia Hydroureter Anonychia Large for gestational age Rocker bottom foot Primary amenorrhea Proximal placement of thumb Finger clinodactyly Pterygium Meningocele Axonal loss Abnormality of the genitourinary system Oligodactyly Spina bifida Microretrognathia Posterior embryotoxon Arnold-Chiari malformation Single transverse palmar crease Gliosis Central nervous system degeneration Unilateral lung agenesis Sacral meningocele Right aortic arch with mirror image branching Acne Impaired T cell function Congenital conductive hearing impairment Duodenal stenosis Perineal fistula Vascular ring Hypoplasia of the brainstem Right aortic arch Arteria lusoria Inflammation of the large intestine Paranoia Aplasia of the thymus Conotruncal defect Velopharyngeal insufficiency Giant platelets Myopathic facies Abnormality of the ear Unilateral primary pulmonary dysgenesis Unilateral renal agenesis Renal cyst Thin upper lip vermilion Abnormality of the hand Retinal vascular tortuosity Narrow chest Severe global developmental delay Nasal speech Corneal opacity Broad forehead Cholelithiasis Camptodactyly Dysdiadochokinesis Flexion contracture Clinodactyly Rheumatoid arthritis Psoriasiform dermatitis Perimembranous ventricular septal defect Platybasia Mood swings Apathy Hearing abnormality Wide nasal bridge Autoimmune hemolytic anemia Bipolar affective disorder Preauricular skin tag Shawl scrotum Aortic arch aneurysm Abnormality of female internal genitalia Dimple chin Narrow naris Abnormality of the cervical spine Lop ear Abnormality of the thymus Abnormality of the adrenal glands Lacrimation abnormality Abnormality of bone mineral density Abnormal palmar dermatoglyphics Square face Abnormality of the inner ear Aplasia/Hypoplasia of the thymus Unilateral facial palsy Hand monodactyly Microphallus Abnormal aortic valve morphology Bifid femur Retinal coloboma Down-sloping shoulders Hypoplasia of the zygomatic bone Abnormal cranial nerve morphology Choanal stenosis Abnormally large globe Eyelid coloboma Facial paralysis Peripheral pulmonary artery stenosis Tics Hyposmia Abnormality of tibia morphology Labial hypoplasia Aqueductal stenosis Aplasia/Hypoplasia of the earlobes Gonadotropin deficiency Hypoplasia of the cochlea Abnormal soft palate morphology Absent radius Abnormal lung lobation Oligohydramnios Cardiomegaly Situs inversus totalis Dextrocardia Ciliary dyskinesia Transposition of the great arteries Abdominal situs inversus Extrapyramidal dyskinesia Heterotaxy Biliary atresia Common atrium Single ventricle Pulmonary artery hypoplasia Mitral atresia Dextrotransposition of the great arteries Reduced dihydropyrimidine dehydrogenase activity Intractable diarrhea Parathyroid hypoplasia Exstrophy Hypoplasia of the semicircular canal Parachute mitral valve Posterior choanal atresia Hypsarrhythmia Delayed CNS myelination Bladder exstrophy Abnormal pyramidal sign Morphological abnormality of the pyramidal tract Abnormality of the cerebral white matter Cirrhosis Metabolic acidosis Cholestasis Short phalanx of finger Infantile spasms Excessive daytime somnolence External ear malformation Weak cry Overweight Broad clavicles Gastroschisis Shortening of all distal phalanges of the fingers Meckel diverticulum Prominent fingertip pads Abnormality of the diaphragm Urethral stricture Abnormal aortic arch morphology Chylothorax Facial hirsutism Hypoplasia of olfactory tract Postaxial oligodactyly Absent left hemidiaphragm Ectopic pancreatic tissue Hypoplasia of the optic tract Intrauterine growth retardation Aplasia cutis congenita of scalp Abnormal aortic morphology Malar flattening Ectopic anus Median cleft lip Thickened nuchal skin fold Bilateral cleft lip Bilateral cleft lip and palate Retinal dysplasia Abnormality of finger Hypoplastic fingernail Absent nipple Broad ribs Bicornuate uterus Abnormality of the helix Ovarian cyst Aplasia/Hypoplasia of the nipples Bifid nose Ureteral duplication Downslanted palpebral fissures Syndactyly Broad palm Abnormality of vision Horseshoe kidney Short chin Torticollis Cranial nerve paralysis Cutaneous syndactyly Anosmia Reduced number of teeth Aspiration Laryngomalacia Hand polydactyly Chorioretinal coloboma Tracheoesophageal fistula Hypoplasia of the ulna External genital hypoplasia Mixed hearing impairment Narrow face Lymphopenia Midface retrusion Microtia Pneumonia Prominent forehead Micropenis Narrow mouth Facial palsy Postnatal growth retardation Paralysis Pectus carinatum Abnormality of the genital system Facial asymmetry Iris coloboma Highly arched eyebrow Delayed eruption of teeth Growth hormone deficiency Webbed neck Abnormality of the ribs Peripheral demyelination Abnormality of the renal tubule Underdeveloped nasal alae Stroke Lactic acidosis Peripheral axonal neuropathy Vertigo Ichthyosis Confusion Paresthesia Malabsorption Nausea and vomiting Carious teeth Ophthalmoplegia Arthrogryposis multiplex congenita Generalized tonic-clonic seizures Pruritus Dilated cardiomyopathy Nyctalopia Polymicrogyria Abnormality of the liver Erythema Developmental regression Hypertrophic cardiomyopathy Proteinuria Myalgia EEG abnormality Jaundice Dyspnea Weight loss Gait ataxia Abdominal pain Diabetes mellitus Osteoporosis Nausea Hirsutism Constipation Nephrotic syndrome Clonus Cerebral visual impairment Abnormality of retinal pigmentation Gingival overgrowth Anorexia Left ventricular hypertrophy Decreased body weight Involuntary movements Hypertrichosis Hemiparesis Atrial fibrillation Ventricular hypertrophy Pulmonary arterial hypertension Type II diabetes mellitus Bilateral sensorineural hearing impairment Nephropathy Sudden cardiac death Polyneuropathy Coma Postural instability Muscle cramps Abnormal cerebellum morphology Generalized myoclonic seizures Sensory impairment Generalized-onset seizure Migraine Increased serum lactate Memory impairment Cerebral calcification Pigmentary retinopathy Abnormality of the cardiovascular system Rod-cone dystrophy Delayed skeletal maturation Truncal ataxia Generalized hyperpigmentation Splenomegaly Frontal bossing Extrapulmonary sequestrum Hypoplastic colon Hypoplasia of the small intestine Aplasia/Hypoplasia of the macula Cerebral cortical hemiatrophy Pancreatic fibrosis Lymphangioma Subcortical cerebral atrophy Oxycephaly Rib fusion Enlarged kidney Protuberant abdomen Macular dystrophy Macrotia Premature graying of hair Redundant skin Muscle stiffness Hydrops fetalis Hepatic fibrosis Thickened skin Postaxial hand polydactyly Ascites Hypopigmentation of the skin Micromelia Craniosynostosis Rigidity Polydactyly Myopia Brachycephaly Muscular hypotonia of the trunk Elevated serum creatine phosphokinase Pain Encephalopathy Headache Renal insufficiency Kyphosis Abnormality of the dentition Congestive heart failure Vomiting Myopathy Cardiomyopathy Fatigue Gait disturbance Peripheral neuropathy Hypertension Visual impairment Muscle weakness Synophrys Choreoathetosis Thin vermilion border Flat face Short foot Delayed myelination Focal-onset seizure Narrow forehead Patent foramen ovale Large fleshy ears Focal impaired awareness seizure Prominent occiput Limb hypertonia Hydrocele testis Vertical nystagmus Hoarse cry Cardiac arrest EMG abnormality Chorea Spontaneous hematomas Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Leber optic atrophy Abnormal mitochondrial shape Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Hemianopia Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Cochlear degeneration Paralytic ileus Gait imbalance Limb ataxia Bifid uvula Hemolytic anemia Autoimmunity Aggressive behavior Arthritis Inguinal hernia Obesity Thrombocytopenia Recurrent infections Happy demeanor Impaired social interactions Poor coordination Poor eye contact Molar tooth sign on MRI Stereotypy Abnormal cochlea morphology Prominent ear helix Homonymous hemianopia Abnormality of acid-base homeostasis Episodic quadriplegia Bilateral intracranial calcifications Morphological abnormality of the vestibule of the inner ear Morphological abnormality of the inner ear Difficulty walking Broad-based gait Hypermetropia Poor speech Inability to walk Generalized muscle weakness Esotropia Progressive neurologic deterioration Stroke-like episode Cerebral ischemia Generalized hirsutism Cachexia Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Intestinal obstruction Personality changes Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Hemiplegia Bilateral ptosis Hypercalciuria Decreased nerve conduction velocity Atrioventricular block Bundle branch block Ragged-red muscle fibers Type I diabetes mellitus Exercise intolerance Macular degeneration Pancreatitis External ophthalmoplegia Reduced tendon reflexes Ischemic stroke Chronic kidney disease Hypopigmented skin patches Mutism Goiter Hyperkinesis Easy fatigability Growth abnormality Adrenal insufficiency Aphasia Wolff-Parkinson-White syndrome Abnormality of visual evoked potentials Increased CSF lactate Visual hallucinations Tubulointerstitial nephritis Renal tubular dysfunction Aortic dissection Facial diplegia Cardiorespiratory arrest Transient ischemic attack Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Heart block Xerostomia Neonatal hypoglycemia Hashimoto thyroiditis Dysphasia Glomerulopathy Hyperkalemia Visual field defect Prolonged QT interval Multiple lipomas Vertebral fusion Progressive sensorineural hearing impairment Hyperthyroidism Atopic dermatitis Rhabdomyolysis Thyroiditis Primary adrenal insufficiency Pulmonary embolism Distal arthrogryposis Drowsiness Posteriorly placed anus


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