Intellectual disability, severe, and Rod-cone dystrophy

Diseases related with Intellectual disability, severe and Rod-cone dystrophy

In the following list you will find some of the most common rare diseases related to Intellectual disability, severe and Rod-cone dystrophy that can help you solving undiagnosed cases.


Top matches:

High match BARDET-BIEDL SYNDROME 14; BBS14


BBS14 is an autosomal recessive ciliopathy described in a single patient with features of retinitis pigmentosa, obesity, mental retardation, and renal disease (Leitch et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Obesity
  • Rod-cone dystrophy


SOURCES: OMIM MESH MENDELIAN

More info about BARDET-BIEDL SYNDROME 14; BBS14

High match BARDET-BIEDL SYNDROME 13; BBS13


BBS13 is an autosomal recessive ciliopathy with features of obesity, polydactyly, and retinitis pigmentosa (Leitch et al., 2008; Xing et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Obesity
  • Rod-cone dystrophy
  • Polydactyly


SOURCES: MESH OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 13; BBS13

High match BARDET-BIEDL SYNDROME 9; BBS9


BBS9 is an autosomal recessive disorder characterized by obesity, polydactyly, renal anomalies, retinopathy, and mental retardation (Abu-Safieh et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Obesity
  • Rod-cone dystrophy
  • Polydactyly
  • Abnormality of the kidney


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 9; BBS9

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Other less relevant matches:

High match BARDET-BIEDL SYNDROME 7; BBS7


BBS7 is an autosomal recessive disorder characterized by retinitis pigmentosa, postaxial polydactyly, mental retardation, obesity, renal anomalies, and hypogenitalism (Harville et al., 2010). Zaghloul and Katsanis (2009) estimated the contribution of BBS7 gene mutations to the total BBS mutational load to be 1.50%.For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Obesity
  • Rod-cone dystrophy
  • Hypogonadism
  • Polydactyly


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 7; BBS7

High match BARDET-BIEDL SYNDROME 20; BBS20


BBS20 is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability (Lindstrand et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Obesity
  • Rod-cone dystrophy
  • Hypogonadism


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 20; BBS20

High match CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10


The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10 Is also known as neuronal ceroid lipofuscinosis due to cathepsin d deficiency|ceroid lipofuscinosis, neuronal, cathepsin d-deficient

Related symptoms:

  • Seizures
  • Microcephaly
  • Ataxia
  • Spasticity
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10

High match LEBER CONGENITAL AMAUROSIS


Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.

LEBER CONGENITAL AMAUROSIS Is also known as crb|amaurosis congenita of leber i|lca|amaurosis congenita of leber|retinal blindness, congenital

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS

High match NARP SYNDROME


Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.

NARP SYNDROME Is also known as neuropathy-ataxia-retinitis pigmentosa syndrome|neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome|narp syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NARP SYNDROME

High match PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY


Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.

PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY Is also known as pseudoneonatal adrenoleukodystrophy|pseudo-neonatal adrenoleukodystrophy|pseudo-nald|pseudoadrenoleukodystrophy|straight-chain acyl-coa oxidase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY

High match ZELLWEGER SYNDROME


Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.

ZELLWEGER SYNDROME Is also known as zs|cerebrohepatorenal syndrome|zws|chr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ZELLWEGER SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Rod-cone dystrophy

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Polydactyly Uncommon - Between 30% and 50% cases
Obesity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Intellectual disability, severe and Rod-cone dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Retinopathy Hearing impairment Nystagmus Pigmentary retinopathy Visual loss Abnormality of the kidney Hypertelorism Sensorineural hearing impairment Muscular hypotonia Visual impairment Hepatomegaly Blindness Abnormal electroretinogram Intellectual disability, progressive Optic atrophy Generalized hypotonia Respiratory insufficiency Microcephaly Tremor Wide nasal bridge Spasticity

Rare Symptoms - Less than 30% cases


Failure to thrive Encephalopathy Dystonia Acidosis Dysphagia Babinski sign Strabismus Abnormality of the skeletal system Developmental regression Retinal degeneration Optic disc pallor Abnormality of neuronal migration Short stature Irritability Decreased light- and dark-adapted electroretinogram amplitude Cataract Depressed nasal bridge Peripheral neuropathy Respiratory failure Sensory axonal neuropathy EEG abnormality Leukodystrophy Elevated hepatic transaminase Apnea Abnormality of metabolism/homeostasis Myopathy Cardiomyopathy Respiratory distress Dementia Tapetoretinal degeneration Generalized-onset seizure Hypogonadism Low-set ears Ataxia Epicanthus High, narrow palate Peripheral demyelination Skeletal dysplasia Macroglossia Jaundice Hydronephrosis Feeding difficulties in infancy Abnormality of the pinna Malabsorption Corneal opacity Renal cyst Pulmonary hypoplasia Stage 5 chronic kidney disease Bilateral sensorineural hearing impairment Hepatic failure Flat face Polymicrogyria Single transverse palmar crease Spastic tetraplegia Upslanted palpebral fissure High forehead Macrocephaly Micrognathia Cryptorchidism Cognitive impairment High palate Feeding difficulties Diffuse hepatic steatosis No social interaction Abnormality of nervous system morphology CNS demyelination Abnormality of visual evoked potentials Inverted nipples Hand polydactyly Ventricular septal defect Glaucoma Talipes equinovarus Anteverted nares Renal insufficiency Malar flattening Hypospadias Patent ductus arteriosus Areflexia Hyporeflexia Delayed skeletal maturation Agenesis of corpus callosum Posteriorly rotated ears Prominent forehead Round face Aplasia/Hypoplasia of the corpus callosum Premature birth Intestinal lymphangiectasia Bell-shaped thorax Thickened nuchal skin fold Breech presentation Abnormality of the helix Redundant neck skin Labial hypoplasia Abnormality of the mitochondrion Profound global developmental delay Ulnar deviation of the hand Hepatic cysts Abnormality of the tongue Brachyturricephaly Glutaric aciduria Posterior embryotoxon Widely patent fontanelles and sutures Ulnar deviation of the hand or of fingers of the hand Renal cortical cysts Abnormal chorioretinal morphology Albuminuria Renal cortical microcysts Brushfield spots Hyperoxaluria Subependymal cysts Elevated long chain fatty acids Very long chain fatty acid accumulation Sudanophilic leukodystrophy Intrahepatic biliary dysgenesis Adrenal hypoplasia External ear malformation Aciduria Reduced tendon reflexes Cholestasis Heterotopia Pachygyria Hypoplasia of dental enamel Large fontanelles Rhizomelia Decreased liver function Wide anterior fontanel Multicystic kidney dysplasia Aminoaciduria Nephrocalcinosis Opacification of the corneal stroma Severe muscular hypotonia Tetraplegia Epiphyseal stippling Polycystic kidney dysplasia Pyloric stenosis Cubitus valgus Clitoral hypertrophy Rocker bottom foot Flat occiput Metatarsus adductus Abnormality of coagulation Congenital glaucoma Prolonged neonatal jaundice Protruding tongue Underdeveloped supraorbital ridges Primary adrenal insufficiency Brain atrophy Heart block Hypodontia Hemiplegia/hemiparesis Hypermetropia Congenital cataract Talipes Retinal dystrophy Narrow forehead Cerebellar vermis hypoplasia Encephalocele Exotropia Abnormality of retinal pigmentation Low anterior hairline Cone/cone-rod dystrophy High hypermetropia Abnormality of the eye Keratoconus Hyperactive deep tendon reflexes Congenital blindness Severe vision loss Pendular nystagmus Abnormality of the optic disc Aplasia/Hypoplasia of the cerebellar vermis Talipes equinovalgus Fundus atrophy Eye poking Hyperthreoninuria Hyperthreoninemia Short philtrum Photophobia Pain Sloping forehead Postaxial polydactyly External genital hypoplasia Cerebellar atrophy Cerebral atrophy Rigidity Mental deterioration Peripheral axonal neuropathy Gliosis Nevus Neuronal loss in central nervous system Cyanosis Status epilepticus Thin upper lip vermilion Postnatal microcephaly Bradycardia Retinal atrophy Loss of speech Central apnea Intracellular accumulation of autofluorescent lipopigment storage material Increased neuronal autofluorescent lipopigment Premature closure of fontanelles Growth delay Dilatation Mandibular prognathia Coarse facial features Muscle weakness Dysarthria Abnormality of the cerebral white matter Abnormal visual field test Mitochondrial myopathy Progressive external ophthalmoplegia Progressive gait ataxia Asymmetric septal hypertrophy Breathing dysregulation Myoclonic spasms Retinal pigment epithelial mottling Retinal arteriolar tortuosity Necrotizing encephalopathy Abnormal basal ganglia MRI signal intensity Abnormal mitochondria in muscle tissue Corticospinal tract atrophy Infantile spasms Hyperreflexia Myopia Gait disturbance Frontal bossing Hypoplasia of the corpus callosum Hypertonia Myoclonus Brachycephaly Osteopenia Neonatal hypotonia Neurological speech impairment Severe global developmental delay Hyperventilation Constriction of peripheral visual field Ventriculomegaly Nyctalopia Vomiting Headache Arrhythmia Cerebral cortical atrophy Gait ataxia Dyspnea Proximal muscle weakness Anxiety Hypertrophic cardiomyopathy Pallor Paralysis Ophthalmoplegia Oral-pharyngeal dysphagia Paresthesia Lactic acidosis Sensory neuropathy Neurodegeneration Muscle cramps Generalized muscle weakness Chorea Overgrowth Involuntary movements External ophthalmoplegia Hyperkinesis Poor suck Hypoplastic olfactory lobes



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