Generalized hypotonia, and Hypertelorism

Diseases related with Generalized hypotonia and Hypertelorism

In the following list you will find some of the most common rare diseases related to Generalized hypotonia and Hypertelorism 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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 53; MRD53

The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 4 (CG4, equivalent to CG6 and CGC) have mutations in the PEX6 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Depressed nasal bridge
  • Epicanthus


SOURCES: OMIM MESH MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER); PBD4A

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 Generalized hypotonia and Hypertelorism

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Abnormal facial shape Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Delayed speech and language development Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Hypertelorism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Absent speech Depressed nasal bridge Delayed ability to walk Wide mouth Epicanthus

Rare Symptoms - Less than 30% cases

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


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