Generalized hypotonia, and Congenital cataract

Diseases related with Generalized hypotonia and Congenital cataract

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


Top matches:

High match CONGENITAL CATARACT-PROGRESSIVE MUSCULAR HYPOTONIA-HEARING LOSS-DEVELOPMENTAL DELAY SYNDROME


Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome is a rare, genetic, mitochondrial myopathy disorder characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.

CONGENITAL CATARACT-PROGRESSIVE MUSCULAR HYPOTONIA-HEARING LOSS-DEVELOPMENTAL DELAY SYNDROME Is also known as myopathy with cataract and combined respiratory chain deficiency|mitochondrial complex deficiency, combined|congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-PROGRESSIVE MUSCULAR HYPOTONIA-HEARING LOSS-DEVELOPMENTAL DELAY SYNDROME

High match CONGENITAL CATARACT-HEARING LOSS-SEVERE DEVELOPMENTAL DELAY SYNDROME


Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic, lethal, neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe, generalized muscular hypotonia, and central nervous system abnormalities (incl. cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported.

CONGENITAL CATARACT-HEARING LOSS-SEVERE DEVELOPMENTAL DELAY SYNDROME Is also known as congenital cataract-deafness-severe developmental delay syndrome|lethal neurodegenerative disorder due to copper transport defect

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL CATARACT-HEARING LOSS-SEVERE DEVELOPMENTAL DELAY SYNDROME

High match HYPOMYELINATION-CONGENITAL CATARACT SYNDROME


Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.

HYPOMYELINATION-CONGENITAL CATARACT SYNDROME Is also known as hypomyelination and congenital cataract: hcc

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HYPOMYELINATION-CONGENITAL CATARACT SYNDROME

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Other less relevant matches:

High match COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD


Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract


SOURCES: OMIM MENDELIAN

More info about COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD

High match SEVERE NEURODEVELOPMENTAL DISORDER WITH FEEDING DIFFICULTIES-STEREOTYPIC HAND MOVEMENT-BILATERAL CATARACT


Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by Schoch et al., 2017).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE NEURODEVELOPMENTAL DISORDER WITH FEEDING DIFFICULTIES-STEREOTYPIC HAND MOVEMENT-BILATERAL CATARACT

High match SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY


Peroxisomal fatty acyl-CoA reductase-1 disorder is an autosomal recessive disorder characterized by onset in infancy of severely delayed psychomotor development, growth retardation with microcephaly, and seizures. Some patients may have congenital cataracts and develop spasticity later in childhood. Biochemical studies tend to show decreased plasmalogen, consistent with a peroxisomal defect. The disorder is reminiscent of rhizomelic chondrodysplasia punctata (see, e.g., RCDP1, {215100}), although the characteristic skeletal abnormalities observed in RCDP are absent (Buchert et al., 2014).

SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY Is also known as severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder|severe intellectual disability-epilepsy-cataract syndrome due to far1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY

High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1


Congenital muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) are characterized by early onset of muscle weakness, usually before ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; Godfrey et al., 2007). Congenital muscular dystrophy-dystroglycanopathies with or without mental retardation (type B) represent the intermediate range of the spectrum of dystroglycanopathies. They are less severe than muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, {236670}), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and more severe than limb-girdle muscular dystrophy-dystroglycanopathy (type C; see MDDGC1, {609308}). Genetic Heterogeneity of Congenital Muscular Dystrophy-Dystroglycanopathy with or without Mental Retardation (Type B)Congenital muscular dystrophy with mental retardation due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGB2 (OMIM ), caused by mutation in the POMT2 gene (OMIM ); MDDGB3 (OMIM ), caused by mutation in the POMGNT1 gene (OMIM ); MDDGB4 (OMIM ), caused by mutation in the FKTN gene (OMIM ); MDDGB5 (OMIM ), caused by mutation in the FKRP gene (OMIM ); MDDGB6 (OMIM ), caused by mutation in the LARGE gene (OMIM ); and MDDGB14 (OMIM ), caused by mutation in the GMPPB gene (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1 Is also known as muscular dystrophy, congenital, pomt1-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1

High match CONGENITAL CATARACT-MICROCEPHALY-NEVUS FLAMMEUS SIMPLEX-SEVERE INTELLECTUAL DISABILITY SYNDROME


Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-MICROCEPHALY-NEVUS FLAMMEUS SIMPLEX-SEVERE INTELLECTUAL DISABILITY SYNDROME

High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (van Reeuwijk et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomt2-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2

High match CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4


Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder in which individuals have characteristic craniofacial features, cardiac defects, ectodermal anomalies, gastrointestinal dysfunction, and neurocognitive delay (summary by Rauen et al., 2010).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Congenital cataract

Symptoms // Phenotype % cases
Cataract Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Scoliosis Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Generalized hypotonia and Congenital cataract. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Hypoplasia of the corpus callosum Muscle weakness Flexion contracture Spasticity Myopia Ptosis Motor delay Absent speech Hearing impairment Nystagmus Cerebellar hypoplasia

Rare Symptoms - Less than 30% cases


Short stature Microcornea Microphthalmia Developmental regression Telecanthus Intellectual disability, severe Growth delay Abnormal facial shape Neonatal hypotonia Elevated serum creatine phosphokinase Muscular dystrophy Macroglossia Congenital muscular dystrophy Cerebellar dysplasia Strabismus Cleft palate Ventriculomegaly Dilatation Feeding difficulties Hypertelorism Cerebellar atrophy Cerebellar vermis hypoplasia Severe global developmental delay Sensorineural hearing impairment Muscular hypotonia Cerebral atrophy Muscular hypotonia of the trunk CNS hypomyelination Rotary nystagmus Glaucoma Hydrocephalus Cleft lip Abnormality of the cerebral white matter Respiratory insufficiency Visual impairment Hypermetropia Nevus flammeus Cleft upper lip Sparse eyebrow Tented upper lip vermilion Nevus Everted lower lip vermilion Ataxia Abnormal cardiac septum morphology Short philtrum Lactic acidosis Retinal dystrophy Reduced tendon reflexes Limb-girdle muscular dystrophy Progressive hearing impairment Generalized amyotrophy Enlarged cisterna magna Myopathy Intellectual disability, profound Epicanthus Downslanted palpebral fissures Kyphosis Hypospadias Hydronephrosis Sparse hair Polymicrogyria Pachygyria Encephalocele Hyperextensible skin High forehead Leukemia Pulmonic stenosis Lymphoma Growth hormone deficiency Narrow forehead Optic nerve hypoplasia Absent eyebrow Neoplasm Abnormality of the sternum Acute lymphoblastic leukemia Heat intolerance B-cell lymphoma Abnormal aortic valve morphology Multiple lentigines Abnormality of lateral ventricle Hyperhidrosis Moderate myopia Bilateral ptosis Congenital glaucoma Heterotopia Severe muscular hypotonia Lissencephaly Aplasia/Hypoplasia of the corpus callosum Congenital contracture Hypoplasia of the brainstem Skeletal muscle hypertrophy Spinal rigidity Persistent pupillary membrane Abnormality of the periventricular white matter Retinal atrophy Hypoplasia of the pons Buphthalmos Peters anomaly Type II lissencephaly Cerebellar cyst Inability to walk Decreased activity of mitochondrial respiratory chain Facial palsy Truncal titubation Titubation Motor polyneuropathy Lower limb amyotrophy Loss of ability to walk Cerebral hypomyelination Cerebral white matter atrophy Progressive cataract Axonal loss Micrognathia Macrocephaly Frontal bossing Posteriorly rotated ears Coloboma Dandy-Walker malformation Congenital sensorineural hearing impairment Onion bulb formation Axonal degeneration Albinism Intellectual disability, moderate Peripheral neuropathy Hyperreflexia Dysarthria Tremor Intellectual disability, mild Babinski sign Hypocupremia Decreased motor nerve conduction velocity Abnormal pyramidal sign Poor speech Lower limb muscle weakness Polyneuropathy Abnormal cerebellum morphology Intention tremor Leukodystrophy Preauricular pit Premature graying of hair Progressive sensorineural hearing impairment Tetraparesis Macrotia Coarse facial features Thin upper lip vermilion Decreased serum ferritin Smooth philtrum Highly arched eyebrow Rhizomelia Short nose Spastic tetraparesis Progressive spastic quadriplegia Infantile axial hypotonia Skeletal muscle atrophy Respiratory distress Cardiomyopathy Decreased serum ceruloplasmin Long philtrum Abnormality of the skeletal system Shallow orbits Delayed speech and language development Osteopetrosis Blue irides Generalized hypopigmentation Neutropenia Failure to thrive Neurodegeneration Difficulty walking Abnormal muscle fiber protein expression Irritability Broad nasal tip Delayed myelination Hypsarrhythmia Stereotypy Mutism Poor head control Abnormal ventricular septum morphology



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