Intellectual disability, severe, and Open mouth

Diseases related with Intellectual disability, severe and Open mouth

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

Top matches:

MENTAL RETARDATION, X-LINKED 30; MRX30 Is also known as mental retardation, x-linked 47|mrx47

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • High palate


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 30; MRX30

Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cpsq5, formerly|cerebral palsy, spastic quadriplegic, 5, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 14; JBTS14

Other less relevant matches:

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

Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.

TEMPLE-BARAITSER SYNDROME Is also known as severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome|mental retardation, severe, and absent nails of hallux and pollex|tmbts

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TEMPLE-BARAITSER SYNDROME

MDDGB2 is an autosomal recessive congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities (Yanagisawa et al., 2007). It is part of a group of similar disorders, collectively known as 'dystroglycanopathies,' resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) (Godfrey et al., 2007).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2 Is also known as muscular dystrophy, congenital, pomt2-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, 2; MDDGB2

Keppen-Lubinsky syndrome is a very rare disorder characterized by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth (summary by Masotti et al., 2015).

KEPPEN-LUBINSKY SYNDROME Is also known as generalized lipodystrophy-progeroid features-severe intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about KEPPEN-LUBINSKY SYNDROME

The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.

5Q14.3 MICRODELETION SYNDROME Is also known as monosomy 5q14.3|del(5)(q14.3)|mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 5Q14.3 MICRODELETION SYNDROME

Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.

CHRISTIANSON SYNDROME Is also known as x-linked angelman-like syndrome|x-linked intellectual disability, south african type|mental retardation, microcephaly, epilepsy, and ataxia syndrome|x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy synd

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CHRISTIANSON SYNDROME

High match MEHMO SYNDROME

MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.

MEHMO SYNDROME Is also known as mental retardation, x-linked, syndromic 25|mental retardation, x-linked, syndromic, borck type|x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|mrxs25|mrxsbrk|mrxs20|mental retardation, x-linked, syndromic 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEHMO SYNDROME

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

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Absent speech

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development Growth delay Hypoplasia of the corpus callosum Ventriculomegaly Strabismus Muscular hypotonia Abnormal facial shape Neonatal hypotonia Hypertonia Hyperreflexia Flexion contracture Spasticity Short stature Short philtrum Macrotia High palate Hyperactivity Abnormality of the periventricular white matter Malar flattening Ataxia Long face Tented upper lip vermilion Stereotypy Downturned corners of mouth Inability to walk Downslanted palpebral fissures Febrile seizures Ptosis Nystagmus Hypertelorism Deeply set eye Anteverted nares Dystonia Abnormality of eye movement Autism Motor delay Drooling Aggressive behavior Severe global developmental delay Attention deficit hyperactivity disorder

Rare Symptoms - Less than 30% cases

Feeding difficulties in infancy Narrow face Autistic behavior Broad forehead Mandibular prognathia Poor speech Gait ataxia Cachexia Mask-like facies Feeding difficulties Cognitive impairment Joint hyperflexibility Ophthalmoplegia Encephalopathy Myopathic facies Epileptic encephalopathy Cryptorchidism Myopia Respiratory insufficiency Dilatation Cerebral cortical atrophy EEG abnormality Tented philtrum Thick eyebrow Micropenis Spastic tetraparesis Micrognathia Poor eye contact Intellectual disability, profound Self-mutilation Adducted thumb Intellectual disability, progressive Full cheeks Tapered finger Thick vermilion border Large earlobe Generalized tonic-clonic seizures Long philtrum Scoliosis Depressed nasal bridge Hearing impairment Happy demeanor Failure to thrive Muscular hypotonia of the trunk Epicanthus Coloboma Irritability Abnormality of the eye Babinski sign High forehead Wide nasal bridge Wide mouth Low-set ears Cerebellar vermis hypoplasia Upslanted palpebral fissure Short nose Agitation Talipes equinovarus Myoclonus Lower limb spasticity Tetraparesis Progressive microcephaly Protruding ear Toe syndactyly Pancreatitis Bowel incontinence Iris coloboma Widely spaced teeth Short foot Generalized myoclonic seizures Hypoplasia of penis Convex nasal ridge Sloping forehead Broad-based gait Growth hormone deficiency Heterotopia Short chin Absence seizures Plagiocephaly Everted lower lip vermilion Narrow nasal tip External genital hypoplasia Abnormally large globe Decreased testicular size Thin skin Gingival overgrowth Recurrent pneumonia Birth length less than 3rd percentile Increased susceptibility to fractures Lipodystrophy Opisthotonus Narrow nasal bridge Shallow orbits Progeroid facial appearance Premature skin wrinkling Upper airway obstruction Brachydactyly Dimple chin Narrow nasal ridge Narrow naris Prominent nasal tip Abdominal obesity Generalized lipodystrophy Male hypogonadism Absence of subcutaneous fat Congenital generalized lipodystrophy Loss of facial adipose tissue Cupped ear Abnormality of the forehead Depressed nasal tip Optic nerve hypoplasia Delayed puberty Round face Involuntary movements Abnormality of the foot Photosensitive tonic-clonic seizures Unsteady gait Sleep disturbance Urinary incontinence Conspicuously happy disposition Inappropriate laughter Neuronal loss in central nervous system Abnormality of the nose Generalized-onset seizure Dyslexia Atrophy/Degeneration affecting the brainstem Decreased body weight Arthrogryposis multiplex congenita Postnatal microcephaly Clonus Truncal ataxia Aplasia/Hypoplasia of the corpus callosum Infantile muscular hypotonia Slender finger Long nose Dysphasia Mutism Hyperkinesis Abnormality of the thorax Aplasia/Hypoplasia of the cerebellum Narrow chest Developmental regression Broad nasal tip Diabetes mellitus Lactic acidosis Decreased muscle mass Infantile spasms Small for gestational age Cleft lip Agenesis of cerebellar vermis Hypoglycemia Periventricular leukomalacia Difficulty walking Acidosis Abnormal corpus callosum morphology Abnormality of nervous system morphology Hemiclonic seizures Loss of ability to walk in first decade Frontal cortical atrophy Periventricular white matter hyperdensities Pain Skeletal muscle atrophy Dysphagia Hypogonadism Hypospadias Cerebellar atrophy Intellectual disability, mild Pectus excavatum Obesity Cleft palate Gastroesophageal reflux Underdeveloped nasal alae High anterior hairline High, narrow palate Behavioral abnormality Postaxial polydactyly Highly arched eyebrow Renal cyst Dandy-Walker malformation Encephalocele Molar tooth sign on MRI Occipital encephalocele Meningocele Multiple renal cysts Breathing dysregulation Morning glory anomaly Gait disturbance Vomiting Midface retrusion Polydactyly Abnormality of metabolism/homeostasis Constipation Pes cavus Intellectual disability, moderate Hypermetropia Joint hypermobility Parkinsonism Chorea Delayed myelination Choreoathetosis Clumsiness Aganglionic megacolon Tall stature Prominent nasal bridge Posteriorly rotated ears External ophthalmoplegia Paraplegia Thin upper lip vermilion Anxiety Flat face Psychosis Delayed gross motor development Schizophrenia Restlessness Short attention span Long ear Dysarthria Coarse facial features Pes planus Spastic paraplegia Bulbous nose Pneumonia Tetraplegia Waddling gait Narrow forehead Spastic tetraplegia Protruding tongue Genu recurvatum Facial hypotonia Excessive salivation Acetabular dysplasia Everted upper lip vermilion Hypertension Hydrocephalus Microphthalmia Exotropia Redundant skin Postnatal growth retardation Hip dislocation Hypoplastic thumbnail Muscle weakness Myopathy Areflexia Hyporeflexia Abnormal heart morphology Elevated serum creatine phosphokinase Cerebellar hypoplasia Respiratory failure Proximal muscle weakness Facial palsy Hyperlordosis Retinopathy Muscular dystrophy Pseudoepiphysis of the thumb Abnormality of the cerebral white matter Generalized muscle weakness Macroglossia Pigmentary retinopathy Ventricular hypertrophy Left ventricular hypertrophy Congenital muscular dystrophy Skeletal muscle hypertrophy Calf muscle hypertrophy Left ventricular systolic dysfunction Proptosis Dyspnea Polyhydramnios Absent nail of hallux Flat forehead Language impairment Wide nose Athetosis Chronic constipation Speech apraxia Ileus Impaired social interactions Urethral stenosis Duodenal ulcer Abnormality of creatine metabolism Poor hand-eye coordination Underfolded superior helices Short neck Cerebral atrophy Short distal phalanx of finger Prominent nose Pseudoepiphyses Wide intermamillary distance Small nail Broad thumb Short thumb Low anterior hairline Broad hallux Anonychia Global brain atrophy Short columella Low hanging columella Thick nasal alae Small thenar eminence Frontal upsweep of hair Tall chin


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