Hearing impairment, and Neonatal hypotonia

Diseases related with Hearing impairment and Neonatal hypotonia

In the following list you will find some of the most common rare diseases related to Hearing impairment and Neonatal hypotonia that can help you solving undiagnosed cases.

Top matches:

The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX26 gene have cells of complementation group 8 (CG8, equivalent to CGA). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 7B; PBD7B

Foetal methylmercury syndrome is characterised by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury.

FETAL METHYLMERCURY SYNDROME Is also known as methyl mercury antenatal infection|minamata disease

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Muscular hypotonia
  • Visual impairment


SOURCES: MESH ORPHANET MENDELIAN

More info about FETAL METHYLMERCURY SYNDROME

Medium match GRACILE SYNDROME

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

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GRACILE SYNDROME

Other less relevant matches:

Low match ALG11-CDG

ALG11-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).

ALG11-CDG Is also known as cdg-ip|congenital disorder of glycosylation type 1p|congenital disorder of glycosylation type ip|cdg syndrome type ip|carbohydrate deficient glycoprotein syndrome type ip|cdg1p

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALG11-CDG

NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS; NEDHND Is also known as myopathy, congenital, with neuropathy and deafness|cmnd

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS; NEDHND

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7

The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX2 gene have cells of complementation group 5 (CG5, equivalent to CG10 and CGF). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 5B; PBD5B

Mitochondrial DNA depletion syndrome-8A is a severe autosomal recessive disorder characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration. Renal tubular involvement may also occur (Bourdon et al., 2007).Mitochondrial DNA depletion syndrome-8B is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype (Shaibani et al., 2009).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH RENAL TUBULOPATHY Is also known as mitochondrial dna depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive|mtdna depletion syndrome, encephalomyopathic form with renal tubulopathy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH RENAL TUBULOPATHY

The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX16 gene have cells of complementation group 9 (CG9, equivalent to CGD). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 8B; PBD8B

D-glyceric aciduria is a metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21.

D-GLYCERIC ACIDURIA Is also known as d-glyceric acidemia|d-glycerate kinase deficiency|glycerate kinase deficiency

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about D-GLYCERIC ACIDURIA

Top 5 symptoms//phenotypes associated to Hearing impairment and Neonatal hypotonia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Visual impairment Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Neonatal hypotonia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Acidosis Aminoaciduria Failure to thrive Feeding difficulties Dysarthria Intellectual disability Areflexia Microcephaly Decreased liver function Retinal dystrophy Peripheral neuropathy

Rare Symptoms - Less than 30% cases

Muscular hypotonia of the trunk Opisthotonus Muscle weakness Absent speech Nystagmus Generalized muscle weakness Spasticity Metabolic acidosis Ataxia Very long chain fatty acid accumulation Gait ataxia Dysmetria Unsteady gait Falls Hypertonia Polyneuropathy Vomiting Growth delay Lactic acidosis Intrauterine growth retardation Aciduria Muscular hypotonia Scoliosis Progressive neurologic deterioration Increased serum lactate Poor eye contact Nausea and vomiting Ophthalmoplegia Weight loss Progressive muscle weakness Respiratory insufficiency Ptosis Neonatal respiratory distress Nausea Hyperglycinemia Epileptic spasms Severe failure to thrive Ragged-red muscle fibers Elevated levels of phytanic acid Bronchiolitis Slow saccadic eye movements Difficulty running Gaze-evoked nystagmus Oculomotor apraxia Broad-based gait Glutaric aciduria External ophthalmoplegia Gastrointestinal dysmotility Cachexia Delayed myelination Myoclonus Encephalopathy Cerebral atrophy Hypoglycemia Intellectual disability, severe Autistic behavior Respiratory distress Hyperreflexia Delayed speech and language development Tetraplegia Corpus callosum atrophy Apraxia Spastic paraparesis Leukodystrophy Cerebral cortical atrophy Lower limb spasticity Spastic tetraplegia Frequent falls Sensory neuropathy Abnormality of the cerebral white matter Constipation Hypsarrhythmia Dysphagia Optic atrophy Cognitive impairment Optic nerve hypoplasia Cataract Proximal tubulopathy Cerebellar vermis atrophy Renal tubular acidosis Progressive cerebellar ataxia Long philtrum Facial palsy Myopathy Skeletal muscle atrophy Motor delay High palate Flexion contracture Temperature instability Type I transferrin isoform profile Inverted nipples Scaling skin Retrognathia High forehead Strabismus Peripheral axonal neuropathy Decreased transferrin saturation Chronic lactic acidosis Elevated hepatic iron concentration Increased serum iron Renal Fanconi syndrome Increased serum pyruvate Increased serum ferritin Severe intrauterine growth retardation Cholestasis Hepatitis Hepatic steatosis Cirrhosis Short stature Distal muscle weakness Distal amyotrophy Abnormal cerebellum morphology Aggressive behavior Joint laxity Rod-cone dystrophy Pes cavus Pneumonia Hyporeflexia Cerebellar atrophy Gait disturbance Tremor Proximal renal tubular acidosis Postaxial polydactyly Poor speech Synophrys Polydactyly Cerebral visual impairment Hyperactivity Upslanted palpebral fissure Epicanthus Depressed nasal bridge Cryptorchidism Cleft palate Demyelinating motor neuropathy Demyelinating peripheral neuropathy Motor axonal neuropathy Ankle contracture Generalized amyotrophy Myopathic facies Severe muscular hypotonia Nonketotic hyperglycinemia


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