Hypertelorism, and Delayed speech and language development

Diseases related with Hypertelorism and Delayed speech and language development

In the following list you will find some of the most common rare diseases related to Hypertelorism and Delayed speech and language development that can help you solving undiagnosed cases.

Top matches:

X-linked mental retardation-19 (MRX19) is a nonsyndromic form of mild to moderate mental retardation. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS ), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with mental retardation and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 19; MRX19

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 30; MRD30

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63; EIEE63

Other less relevant matches:

IECEE1 is a neurodevelopmental disorder characterized by delayed psychomotor development apparent in infancy and resulting in severe to profound intellectual disability with poor or absent speech. Most patients never achieve independent walking. Patients typically have onset of refractory multifocal seizures between the first weeks and years of life, and some may show developmental regression. Additional features, such as hypotonia and cortical visual impairment, are more variable (summary by Myers et al., 2017). Genetic Heterogeneity of Infantile or Early Childhood Epileptic EncephalopathySee also IECEE2 (OMIM ), caused by mutation in the GABRB2 gene (OMIM ) on chromosome 5q34, and IECEE3 (OMIM ), caused by mutation in the ATP6V1A gene (OMIM ) on chromosome 3q13.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1; IECEE1

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7 Is also known as mrt22|mental retardation, autosomal recessive 22

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 53; MRD53

Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by Srour et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 58; MRD58

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49

Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about FG SYNDROME 2; FGS2

Top 5 symptoms//phenotypes associated to Hypertelorism and Delayed speech and language development

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

Other less frequent symptoms

Patients with Hypertelorism and Delayed speech and language development. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Absent speech Wide mouth Microcephaly Delayed ability to walk

Rare Symptoms - Less than 30% cases

Inability to walk Long philtrum Hyperactivity High palate Epileptic encephalopathy Generalized-onset seizure Aggressive behavior Short stature Pointed chin Strabismus Epicanthus Downslanted palpebral fissures Autistic behavior Thin upper lip vermilion Autism Dental crowding Motor delay Intellectual disability, mild Prominent forehead Intellectual disability, moderate Depressed nasal bridge Downturned corners of mouth Triangular face Hyperparathyroidism Unilateral renal agenesis Anteriorly placed anus Sandal gap Obsessive-compulsive behavior Nephrocalcinosis Focal-onset seizure Failure to thrive Relative macrocephaly Highly arched eyebrow Large forehead Frontal bossing Frontal upsweep of hair Thin vermilion border Smooth philtrum Anxiety Obsessive-compulsive trait Wide nasal bridge Constipation Obesity Abnormal heart morphology Stereotypy Upslanted palpebral fissure Neonatal hypotonia Clinodactyly Abnormality of the pinna Protruding ear Short nose Macrotia Narrow palpebral fissure Incoordination Plagiocephaly Thick vermilion border Poor speech Macrocephaly Neurological speech impairment Facial asymmetry Intellectual disability, severe Postnatal microcephaly Ptosis Generalized myoclonic seizures Abnormality of movement Cerebral cortical atrophy Midface retrusion Feeding difficulties Mood swings Esophagitis Behavioral abnormality Hearing impairment Overlapping toe Long foot Thick lower lip vermilion Broad nasal tip Small for gestational age Coarse facial features Kyphoscoliosis Abnormality of the skeletal system Scoliosis Cerebral palsy Spasticity Hypotelorism Multifocal seizures EEG abnormality Myoclonus Cerebellar atrophy Narrow philtrum Long face Camptodactyly Deeply set eye Syndactyly Multifocal epileptiform discharges Visual impairment Cerebral visual impairment Hypsarrhythmia Delayed myelination Unsteady gait Talipes Developmental regression Encephalopathy Cerebral atrophy Underdeveloped superior crus of antihelix


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