Intellectual disability, severe, and Retinal dystrophy

Diseases related with Intellectual disability, severe and Retinal dystrophy

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

Top matches:

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies' (summary by Geis et al., 2013 and Riemersma et al., 2015).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, 9; MDDGA9 Is also known as walker-warburg syndrome or muscle-eye brain disease, dag1-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Cataract


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.

INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME Is also known as autosomal recessive intellectual disability due to trappc9 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME

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

Other less relevant matches:

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

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

Infantile cerebellar-retinal degeneration is a rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE CEREBELLAR-RETINAL DEGENERATION

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

Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.

SYNDROMIC MICROPHTHALMIA TYPE 5 Is also known as mcops5|syndromic microphthalmia/anophthalmia due to otx2 mutation

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MICROPHTHALMIA TYPE 5

Medium 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

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Retinal dystrophy

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cataract Retinopathy Nystagmus Pigmentary retinopathy Respiratory distress Cerebral cortical atrophy Visual loss Ataxia Hypoplasia of the corpus callosum Cerebellar hypoplasia Cardiomyopathy Sensorineural hearing impairment Peripheral neuropathy Hypertelorism Rod-cone dystrophy Tremor Apnea Sloping forehead Hearing impairment Wide nasal bridge Short stature Strabismus Spasticity Visual impairment Microphthalmia Myopathy Optic atrophy Myopia Muscular hypotonia

Rare Symptoms - Less than 30% cases

Muscle weakness Scoliosis Severe global developmental delay Skeletal muscle atrophy Respiratory insufficiency Congenital cataract Dementia Cryptorchidism Cerebellar atrophy Micropenis Sensory axonal neuropathy Abnormality of neuronal migration Aplasia/Hypoplasia of the cerebellum Cone/cone-rod dystrophy Abnormality of retinal pigmentation Optic disc pallor Generalized-onset seizure Bradycardia Cerebral atrophy Thin upper lip vermilion Cerebellar vermis hypoplasia Retinal degeneration Narrow forehead Pallor Abnormality of the eye Congenital muscular dystrophy Acidosis Agenesis of corpus callosum Blindness Muscular dystrophy Encephalopathy Respiratory failure Absent speech Macrocephaly Ventriculomegaly Dilatation Central apnea Elevated serum creatine phosphokinase Glaucoma Photophobia Mandibular prognathia Narrow mouth Posteriorly rotated ears Abnormality of the skeletal system Talipes equinovarus Micrognathia Scarring Downslanted palpebral fissures Hepatomegaly Hypothyroidism Joint laxity Coloboma Cleft palate Hyperactive deep tendon reflexes Hyperthreoninemia Abnormal electroretinogram Congenital blindness Astigmatism Severe vision loss Pendular nystagmus Keratoconus Decreased light- and dark-adapted electroretinogram amplitude High hypermetropia Abnormality of the optic disc Hemiplegia/hemiparesis Low anterior hairline Coarse facial features Aplasia/Hypoplasia of the cerebellar vermis Exotropia Talipes equinovalgus Encephalocele Fundus atrophy Eye poking Talipes Hypermetropia Hyperthreoninuria Abnormality of the kidney Short philtrum Aglossia Microcornea Constriction of peripheral visual field Paresthesia Lactic acidosis Sensory neuropathy Neurodegeneration Muscle cramps Generalized muscle weakness Chorea Overgrowth Involuntary movements External ophthalmoplegia Hyperkinesis Poor suck Oral-pharyngeal dysphagia Infantile spasms Nyctalopia Hyperventilation Mitochondrial myopathy Progressive external ophthalmoplegia Heart block 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 Abnormal visual field test Ophthalmoplegia Paralysis Hypoplasia of the maxilla Vegetative state Microretrognathia Arnold-Chiari malformation Optic nerve hypoplasia Anophthalmia Short middle phalanx of finger Posterior embryotoxon Microglossia Hypoplasia of the fovea Retinal dysplasia Central hypothyroidism Ectopic posterior pituitary Mandibular aplasia Macular scar Proboscis Myopic astigmatism Irritability Pain Dysarthria Dysphagia Vomiting Dystonia Headache Arrhythmia Babinski sign Gait ataxia Dyspnea Proximal muscle weakness Anxiety Hypertrophic cardiomyopathy Developmental regression Growth delay Nevus Demyelinating peripheral neuropathy Macroglossia Malignant hyperthermia Congenital stationary night blindness Abnormality of brain morphology Horizontal eyebrow Large fleshy ears Multifocal cerebral white matter abnormalities Flexion contracture Motor delay Facial palsy Inability to walk Limb-girdle muscular dystrophy Congenital hypothyroidism Generalized amyotrophy Enlarged cisterna magna Cerebellar dysplasia Hypospadias Inguinal hernia Polydactyly Postaxial polydactyly Dandy-Walker malformation Postaxial hand polydactyly Ambiguous genitalia Congenital diaphragmatic hernia Underdeveloped supraorbital ridges Round face Tall stature Poor head control Hydrocephalus Corneal opacity Abnormality of the cerebral white matter Polymicrogyria Cerebral calcification High myopia Intellectual disability, profound Leukodystrophy Lissencephaly Holoprosencephaly Buphthalmos Generalized myoclonic seizures Cerebellar cyst Agyria Abnormal facial shape Epicanthus Obesity Clinodactyly of the 5th finger Brachycephaly Abnormality of the pinna Synophrys Downturned corners of mouth Tapered finger Apraxia Wide anterior fontanel Poor eye contact Failure to thrive Neuronal loss in central nervous system Cyanosis Status epilepticus Postnatal microcephaly Intellectual disability, progressive Retinal atrophy Loss of speech Intracellular accumulation of autofluorescent lipopigment storage material Increased neuronal autofluorescent lipopigment Premature closure of fontanelles Edema Peripheral axonal neuropathy Areflexia Hyporeflexia Muscular hypotonia of the trunk Abnormality of eye movement Metabolic acidosis Progressive microcephaly Increased body weight Progressive hearing impairment Athetosis Hyperglycemia Muscle fibrillation Gliosis Mental deterioration Oculomotor apraxia Abnormality of skin pigmentation Aplasia/Hypoplasia of the corpus callosum Triphalangeal thumb Prominent occiput Molar tooth sign on MRI Nephronophthisis Abnormality of the clavicle Hyperreflexia Intrauterine growth retardation Anteverted nares Hypertonia Protruding ear Retinal detachment Rigidity Pachygyria Lymphedema Pointed chin Cortical gyral simplification Biparietal narrowing Abnormal eyelash morphology Vitreoretinopathy Retinal fold Chorioretinal dysplasia Low-set ears Abnormality of metabolism/homeostasis Corticospinal tract atrophy


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Hip dysplasia, related diseases and genetic alterations Macrocephaly and Blindness, related diseases and genetic alterations Lymphoma and Spina bifida, related diseases and genetic alterations Cognitive impairment and Short distal phalanx of finger, related diseases and genetic alterations Peripheral neuropathy and Hypothyroidism, related diseases and genetic alterations Generalized hypotonia and Glaucoma, related diseases and genetic alterations