Generalized hypotonia, and Retinopathy

Diseases related with Generalized hypotonia and Retinopathy

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 28; JBTS28

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29; COXPD29

Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia associated with pigmental macular dystrophy. In her classification of ataxia, Harding (1982) referred to progressive cerebellar ataxia with pigmentary macular degeneration as type II ADCA (autosomal dominant cerebellar ataxia). The age at onset, degree of severity, and rate of progression vary among and within families. Associated neurologic signs, such as ophthalmoplegia, pyramidal or extrapyramidal signs, deep sensory loss, or dementia, are also variable. Genetic anticipation is observed and is greater in paternal than in maternal transmissions (Benomar et al., 1994; summary by David et al., 1996).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 7; SCA7 Is also known as opca iii|opca with macular degeneration and external ophthalmoplegia|adca, type ii|olivopontocerebellar atrophy iii|opca3|opca with retinal degeneration|autosomal dominant cerebellar ataxia, type ii

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 7; SCA7

Other less relevant matches:

Griscelli syndrome type 1 (GS1) represents hypomelanosis with a primary neurologic deficit and without immunologic impairment or manifestations of hemophagocytic syndrome (Menasche et al., 2002). Griscelli syndrome with immune impairment, or Griscelli syndrome type 2 (OMIM ), is caused by mutation in the RAB27A gene (OMIM ). Griscelli syndrome type 3 (OMIM ), characterized by hypomelanosis with no immunologic or neurologic manifestations, can be caused by mutation in the melanophilin (MLPH ) or MYO5A genes.Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. While most patients also develop hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation (Menasche et al., 2000), some show severe neurologic impairment early in life without apparent immune abnormalities. Bahadoran et al. (2003) characterized GS1 as comprising hypomelanosis and severe central nervous system dysfunction, corresponding to the 'dilute' phenotype in the mouse, and GS2 as comprising hypomelanosis and lymphohistiocytotic hemophagocytosis, corresponding to the 'ashen' phenotype in mouse.Anikster et al. (2002), Menasche et al. (2002), Huizing et al. (2002), and {3,2:Bahadoran et al. (2003, 2003)} suggested that Elejalde syndrome (OMIM ) in some patients and GS1 represent the same entity.

GRISCELLI SYNDROME TYPE 1 Is also known as partial albinism and primary neurologic disease without hemophagocytic syndrome|griscelli syndrome, cutaneous and neurologic type|griscelli-pruni√Čras syndrome type 1|hypopigmentation-neurologic impairment syndrome|griscelli syndrome with neurologic impair

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about GRISCELLI SYNDROME TYPE 1

Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.

ACROCALLOSAL SYNDROME Is also known as acs

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME

Autosomal recessive chorioretinopathy-microcephaly syndrome is a rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.

AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME Is also known as autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME

OROFACIODIGITAL SYNDROME XVI; OFD16 Is also known as oral-facial-digital syndrome, type xvi|ofds xvi

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XVI; OFD16

Joubert syndrome is an autosomal recessive congenital condition characterized by a unique brainstem and cerebellar malformation comprising cerebellar vermis hypoplasia and/or dysplasia, elongated superior cerebellar peduncles, and deepened interpeduncular fossa, which together are recognized as the 'molar tooth sign' on brain MRI. The most common clinical features include delayed psychomotor development, hypotonia, abnormal respiratory patterns in the neonatal period, oculomotor apraxia, and cerebellar ataxia. Additional features may include retinal degeneration, cystic kidney, liver fibrosis, and polydactyly. It is caused by ciliary defects and is part of a spectrum of disorders known as 'ciliopathies' (summary by Akizu et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 21; JBTS21

Autosomal dominant cerebellar ataxias (ADCAs) are a heterogeneous group of disorders that were classified clinically by Harding (1983). Progressive cerebellar ataxia is the primary feature. In ADCA I, cerebellar ataxia of gait and limbs is invariably associated with supranuclear ophthalmoplegia, pyramidal or extrapyramidal signs, mild dementia, and peripheral neuropathy. In ADCA II, macular and retinal degeneration are added to the features. ADCA III is a pure form of late-onset cerebellar ataxia. ADCA I includes SCA1 (OMIM ), SCA2, and SCA3, or Machado-Joseph disease (OMIM ). These 3 are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively.For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 2; SCA2 Is also known as wadia-swami syndrome|spinocerebellar ataxia, cuban type|olivopontocerebellar atrophy, holguin type|spinocerebellar degeneration with slow eye movements|olivopontocerebellar atrophy ii|spinocerebellar atrophy ii|cerebellar degeneration with slow eye moveme

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 2; SCA2

NPHS14 is an autosomal recessive syndromic form of steroid-resistant nephrotic syndrome with multisystemic manifestations. Most affected individuals present in infancy or early childhood with progressive renal dysfunction associated with focal segmental glomerulosclerosis (FSGS) and resulting in end-stage renal disease within a few years. Other infants present with primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. Additional features of the disorder can include ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects (summary by Prasad et al., 2017 and Lovric et al., 2017).For a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).

FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY Is also known as primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to sgpl1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Retinopathy

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Ataxia Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Oculomotor apraxia Molar tooth sign on MRI Ptosis Optic atrophy Intellectual disability, severe Pigmentary retinopathy Mental deterioration Muscular hypotonia Strabismus Sensorineural hearing impairment Apnea Retinal degeneration Peripheral neuropathy Retinal dystrophy Apraxia Polydactyly Microcephaly

Rare Symptoms - Less than 30% cases

Dysmetria Slow saccadic eye movements Dandy-Walker malformation Progressive cerebellar ataxia Micropenis Chorea Neuronal loss in central nervous system Inguinal hernia Abnormality of extrapyramidal motor function External ophthalmoplegia Aplasia/Hypoplasia of the cerebellum Spinocerebellar tract degeneration Visual impairment Olivopontocerebellar atrophy Cerebellar hypoplasia Cryptorchidism Supranuclear ophthalmoplegia Cerebral atrophy Scoliosis Nephronophthisis Hypertonia Hearing impairment Diplopia Sloping forehead Dyskinesia Postaxial polydactyly Hyperreflexia Tremor Incoordination Dysphagia Ventriculomegaly Cognitive impairment Motor delay Dysarthria Ophthalmoplegia Heterotopia Dementia Dystonia Cerebellar atrophy Abnormality of eye movement Cerebellar vermis hypoplasia Abnormality of the eye Renal cyst Rigidity Neonatal hypotonia Distal amyotrophy Pallor Sensory neuropathy Neurodegeneration Sleep disturbance Postural instability Pulmonary hypoplasia Polymicrogyria Abnormal cerebellum morphology Dyspnea Encephalocele Hyperechogenic kidneys Difficulty walking Cerebellar malformation Hydranencephaly Abnormal pattern of respiration Bell-shaped thorax Wide cranial sutures Occipital encephalocele Anophthalmia Posterior fossa cyst Hypoplasia of the brainstem Elongated superior cerebellar peduncle Single naris Large fontanelles Flexion contracture Tachypnea Skeletal muscle atrophy Hyporeflexia Short ribs Decreased liver function Hepatic fibrosis Myoclonus Gait ataxia Rod-cone dystrophy Urinary bladder sphincter dysfunction Parkinsonism Lymphopenia Hypothyroidism Hypoglycemia Proteinuria Abnormality of the nervous system Developmental regression Ichthyosis Stage 5 chronic kidney disease Focal-onset seizure Nephrotic syndrome Epidermal acanthosis Hypertriglyceridemia Hypocalcemia Immunodeficiency Recurrent bacterial infections Hypoalbuminemia Glomerulosclerosis Focal impaired awareness seizure Focal segmental glomerulosclerosis Adrenal insufficiency Primary adrenal insufficiency Primary hypothyroidism Diffuse mesangial sclerosis Steroid-resistant nephrotic syndrome Congenital nephrotic syndrome Hypogonadism Edema Nevus Impaired vibratory sensation Bradykinesia Progressive neurologic deterioration Broad-based gait Limb ataxia Fasciculations Truncal ataxia Drooling Poor head control Dysdiadochokinesis Spinal muscular atrophy Postural tremor Gaze-evoked nystagmus Palatal myoclonus Resting tremor Poor coordination Action tremor Dilated fourth ventricle Hypometric saccades Dysmetric saccades Pontocerebellar atrophy Hypopnea Central nervous system degeneration Downbeat nystagmus Impaired horizontal smooth pursuit Hypoplasia of the corpus callosum Protruding ear Sacrococcygeal teratoma Recurrent infections Schizophrenia Ophthalmoparesis Blurred vision Macular dystrophy Bipolar affective disorder Head tremor Orofacial dyskinesia Limb tremor Spinocerebellar atrophy Abnormality of movement Progressive visual loss Hypopigmentation of the skin Cerebral calcification Exotropia Severe muscular hypotonia Hyperlipidemia Premature graying of hair Freckling Iris hypopigmentation White hair Hemophagocytosis Macular degeneration Paraplegia Silver-gray hair Delayed CNS myelination Feeding difficulties Brain atrophy Delayed myelination Increased serum lactate Global brain atrophy Axonal degeneration Optic neuropathy Increased CSF protein Increased CSF lactate Decreased activity of mitochondrial complex I Spastic paraplegia Peripheral axonal degeneration Subependymal cysts Decreased activity of mitochondrial complex III Failure to thrive Blindness Visual loss Areflexia Babinski sign Reduced visual acuity Abnormal pyramidal sign Partial albinism Generalized bronze hyperpigmentation Hamartoma of tongue Retinal fold Abnormality of retinal pigmentation Lymphedema Pointed chin Cone/cone-rod dystrophy Abnormality of neuronal migration Cortical gyral simplification Biparietal narrowing Abnormal eyelash morphology Vitreoretinopathy Chorioretinal dysplasia Optic disc pallor Low-set ears Depressed nasal bridge Ventricular septal defect Hernia Retrognathia Inability to walk Intestinal malrotation Short palpebral fissure Hamartoma Teratoma Pachygyria Retinal detachment Accumulation of melanosomes in melanocytes Aplasia/Hypoplasia of the corpus callosum Melanin pigment aggregation in hair shafts Hypertelorism Macrocephaly Hypospadias Postaxial hand polydactyly Ambiguous genitalia Congenital diaphragmatic hernia Tall stature Wide anterior fontanel Triphalangeal thumb Abnormality of skin pigmentation Prominent occiput Abnormality of the clavicle Short stature Cataract Wide nasal bridge Intrauterine growth retardation Anteverted nares Microphthalmia Cerebral cortical atrophy Glaucoma Absent testis


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