Intellectual disability, severe, and Hypermetropia

Diseases related with Intellectual disability, severe and Hypermetropia

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS; MRAMS

Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Mental retardation that is not associated with other distinguishing features is referred to as 'nonspecific.' ClassificationOpitz and Sutherland (1984) reported on a conference in which fragile X mental retardation and X-linked mental retardation of numerous other types were discussed. The report contains a rather comprehensive discussion by Opitz of the nosology of X-linked mental retardation. Mulley et al. (1992) reviewed nomenclature guidelines for X-linked mental retardation.Raymond (2006) reviewed the diagnosis and classification of X-linked mental retardation and discussed the phenotypes associated with genes causing syndromic and nonsyndromic mental retardation.

X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY Is also known as mrx|mrx18|mental retardation, x-linked 78|mrx78|mental retardation, x-linked 18

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME

Other less relevant matches:

Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

High match ALG6-CDG

ALG6-CDG is a form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).

ALG6-CDG Is also known as cdg1c|cdg ic|cdgs5, formerly|cdg-ic|carbohydrate-deficient glycoprotein syndrome, type i, with deficient glycosylation of dolichol-linked oligosaccharide, formerly|cdgic|congenital disorder of glycosylation type 1c|carbohydrate-deficient glycoprotein synd

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ALG6-CDG

PCH11 is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging. Additional features are more variable (summary by Marin-Valencia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11

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

Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.

X-LINKED CREATINE TRANSPORTER DEFICIENCY Is also known as slc6a8 deficiency|mental retardation, x-linked, with creatine transport deficiency|creatine deficiency syndrome, x-linked|mental retardation, x-linked, with seizures, short stature, and midface hypoplasia|creatine transporter deficiency|creatine transport

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED CREATINE TRANSPORTER DEFICIENCY

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

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

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Neonatal hypotonia Poor speech Exotropia Ataxia Muscular hypotonia Hyperactivity Hypertelorism Autistic behavior Broad forehead Abnormal facial shape Cleft palate Delayed speech and language development

Rare Symptoms - Less than 30% cases

Short stature Dysarthria Ptosis Abnormality of the skeletal system Hydrocephalus Microphthalmia Midface retrusion Congenital cataract Coloboma Narrow forehead Cerebellar vermis hypoplasia Dilatation Visual impairment Cataract Tremor Feeding difficulties Blindness Agenesis of corpus callosum Muscular hypotonia of the trunk Growth delay Broad-based gait Mandibular prognathia Spasticity Impaired social interactions Self-mutilation Stereotypy Hypertonia Attention deficit hyperactivity disorder Talipes Hypoplasia of the corpus callosum Encephalocele Esotropia Astigmatism Short philtrum Hearing impairment Thin upper lip vermilion Language impairment Behavioral abnormality Absent speech Motor delay Aggressive behavior Macrotia Abnormality of the dentition Depressed nasal bridge Patent ductus arteriosus Retinal degeneration Atrial septal defect Cryptorchidism Abnormality of the optic disc Decreased light- and dark-adapted electroretinogram amplitude Failure to thrive Thin vermilion border Coarctation of aorta Aplasia/Hypoplasia of the cerebellar vermis Cognitive impairment Gait disturbance Vomiting Dystonia Pendular nystagmus Malar flattening Abnormality of metabolism/homeostasis Moderate myopia Type II lissencephaly Persistent pupillary membrane Spinal rigidity Pachygyria Heterotopia Severe muscular hypotonia Lissencephaly Aplasia/Hypoplasia of the corpus callosum Congenital contracture Congenital muscular dystrophy Hypoplasia of the brainstem Skeletal muscle hypertrophy Congenital glaucoma Abnormality of the periventricular white matter Talipes equinovalgus Hyperthreoninuria Retinal atrophy Eye poking Hypoplasia of the pons Buphthalmos Fundus atrophy Peters anomaly Cerebellar dysplasia Pes cavus Cerebellar cyst Constipation Irritability Severe vision loss Sensorineural hearing impairment Speech apraxia Ileus Urethral stenosis Duodenal ulcer Abnormal electroretinogram Abnormality of creatine metabolism Cone/cone-rod dystrophy Poor hand-eye coordination Underfolded superior helices Nystagmus Low anterior hairline Myopathic facies Hepatomegaly Abnormality of retinal pigmentation Visual loss Pigmentary retinopathy Rod-cone dystrophy Coarse facial features Retinal dystrophy Photophobia Abnormality of the eye Abnormality of the kidney Chronic constipation Hemiplegia/hemiparesis Intellectual disability, moderate Open mouth Feeding difficulties in infancy Retinopathy Ophthalmoplegia Joint hyperflexibility Long face Joint hypermobility Parkinsonism Congenital blindness Chorea Delayed myelination Hyperactive deep tendon reflexes Mask-like facies Choreoathetosis Clumsiness Aganglionic megacolon Tall stature Keratoconus High hypermetropia Abnormality of neuronal migration Narrow face External ophthalmoplegia Cachexia Redundant skin Athetosis Dandy-Walker malformation Intellectual disability, profound Deep philtrum High palate Macrocephaly Anteverted nares Short nose Upslanted palpebral fissure Synophrys Oral cleft Microcornea Hypotelorism Holoprosencephaly Trigonocephaly Long toe Absent thumb Abnormality of digit Facial cleft Scaphocephaly Single median maxillary incisor Cyclopia Proboscis Small posterior fossa Exencephaly Edema Inappropriate laughter Tics Areflexia Pain Psychosis Dental crowding Amblyopia Open bite Short attention span Hyperplasia of the maxilla Brachycephaly Postnatal microcephaly Plagiocephaly Abnormality of the head Wide nasal bridge Fair hair Downslanted palpebral fissures Deeply set eye Wide mouth Sparse hair Blepharophimosis Broad nasal tip Fine hair Narrow palpebral fissure Long fingers Long palpebral fissure Recurrent infections Hypoglycemia Macroglossia Flexion contracture Inability to walk Generalized muscle weakness Progressive neurologic deterioration Limb ataxia Molar tooth sign on MRI Poor eye contact Poor coordination Happy demeanor Scoliosis Muscle weakness Myopia Anal atresia Ventriculomegaly Respiratory insufficiency Elevated serum creatine phosphokinase Cerebellar hypoplasia Glaucoma Cleft lip Muscular dystrophy Abnormality of the cerebral white matter Cleft upper lip Polymicrogyria Bulbous nose Protruding ear Dysmetria Frontal balding Hepatic failure Intention tremor Cerebral visual impairment Abnormal intestine morphology Polycystic ovaries Partial agenesis of the corpus callosum Alopecia of scalp Hyperinsulinemic hypoglycemia Protein-losing enteropathy Type I transferrin isoform profile Increased serum testosterone level Respiratory tract infection Reduced antithrombin III activity Reduced factor XI activity Elevated serum transaminases during infections Skeletal muscle atrophy Dysphagia Talipes equinovarus Hyporeflexia Recurrent respiratory infections Difficulty walking Abnormality of the nervous system Hyperthreoninemia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Optic atrophy and Ambiguous genitalia, related diseases and genetic alterations Brachydactyly and Autoimmunity, related diseases and genetic alterations Edema and Hepatomegaly, related diseases and genetic alterations Peripheral neuropathy and Skeletal muscle atrophy, related diseases and genetic alterations Nystagmus and Retinopathy, related diseases and genetic alterations Scoliosis and Skeletal muscle atrophy, related diseases and genetic alterations