Hearing impairment, and Acidosis

• Hearing impairment

SOURCES: OMIM MENDELIAN

• Hearing impairment

SOURCES: OMIM MENDELIAN

• Hearing impairment

SOURCES: OMIM MENDELIAN

Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed.

AUTOSOMAL RECESSIVE DISTAL RENAL TUBULAR ACIDOSIS Is also known as autosomal recessive distal rta|rta, distal, autosomal recessive|ar drta|renal tubular acidosis, autosomal recessive, with preserved hearing

• Hearing impairment
• Growth delay
• Failure to thrive
• Sensorineural hearing impairment
• Vomiting

SOURCES: OMIM ORPHANET MENDELIAN

Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).PEO caused by mutations in the POLG gene are associated with more complicated phenotypes than those forms caused by mutations in the ANT1 or C10ORF2 genes (Lamantea et al., 2002).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2; PEOA2 Is also known as progressive external ophthalmoplegia, autosomal dominant 2

• Hearing impairment
• Sensorineural hearing impairment
• Muscle weakness
• Ptosis
• Dementia

SOURCES: OMIM MESH MENDELIAN

GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).

GRACILE SYNDROME Is also known as growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome|growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome|lactic acidosis, finnish, with hepatic hemosiderosis|fellman syndrome

• Hearing impairment
• Growth delay
• Intrauterine growth retardation
• Acidosis
• Neonatal hypotonia

SOURCES: ORPHANET MESH OMIM MENDELIAN

Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.

DEAFNESS-ENCEPHALONEUROPATHY-OBESITY-VALVULOPATHY SYNDROME Is also known as hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome

• Intellectual disability
• Hearing impairment
• Peripheral neuropathy
• Macrocephaly
• Optic atrophy

SOURCES: OMIM ORPHANET MENDELIAN

SURF1-related Charcot-Marie-Tooth disease type 4 is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).

SURF1-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 4 Is also known as charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4k|charcot-marie-tooth disease type 4k|surf1-related cmt4|charcot-marie-tooth neuropathy, demyelinating, autosomal recessive, type 4k|surf1-related severe demyelinating charcot-marie-to

• Hearing impairment
• Ataxia
• Nystagmus
• Sensorineural hearing impairment
• Muscle weakness

SOURCES: ORPHANET OMIM MENDELIAN

COXPD34 is an autosomal recessive disorder resulting from a defect in mitochondrial function. The phenotype is variable, but may include congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction. Neurologic function is relatively preserved (summary by Menezes et al., 2015).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

SYNDROMIC SENSORINEURAL DEAFNESS DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT Is also known as syndromic sensorineural deafness due to coxpd|syndromic sensorineural hearing loss due to coxpd

• Hearing impairment
• Failure to thrive
• Sensorineural hearing impairment
• Hepatomegaly
• Vomiting

SOURCES: ORPHANET OMIM MENDELIAN

RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS Is also known as rta with progressive nerve deafness|renal tubular acidosis with progressive nerve deafness|renal tubular acidosis, autosomal recessive, with progressive nerve deafness

• Intellectual disability
• Hearing impairment
• Failure to thrive
• Sensorineural hearing impairment
• Vomiting

SOURCES: OMIM MENDELIAN