Abnormal facial shape, and Absent speech

Diseases related with Abnormal facial shape and Absent speech

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Absent speech that can help you solving undiagnosed cases.


Top matches:

Medium match MENTAL RETARDATION, X-LINKED 101; MRX101


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 101; MRX101

Medium match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11; GPIBD11


GPIBD11 is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, and variable seizures. Some patients may have dysmorphic features or increased serum alkaline phosphatase. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Hogrebe et al., 2016).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11; GPIBD11 Is also known as hyperphosphatasia with mental retardation syndrome 5|hpmrs5

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11; GPIBD11

Medium match MENTAL RETARDATION, X-LINKED 103; MRX103


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cryptorchidism
  • Ventriculomegaly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 103; MRX103

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Other less relevant matches:

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63; EIEE63


Related symptoms:

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


SOURCES: OMIM MENDELIAN

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

Medium match EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1; IECEE1


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

Medium match NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY; NEDMEBA


NEDMEBA is an autosomal recessive neurodegenerative disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia (summary by Marin-Valencia et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY; NEDMEBA

Medium match X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY


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

Medium match X-LINKED COMPLICATED CORPUS CALLOSUM DYSGENESIS


X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Muscle weakness


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED COMPLICATED CORPUS CALLOSUM DYSGENESIS

Medium match MENTAL RETARDATION, X-LINKED 49; MRX49


Nonsyndromic mental retardation. Hypotonia in infancy, poor or absent speech, and other disorders are occasionally associated.

MENTAL RETARDATION, X-LINKED 49; MRX49 Is also known as mental retardation, x-linked 15|mrx15

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 49; MRX49

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 53; MRD53


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 53; MRD53

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Absent speech

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

Patients with Abnormal facial shape and Absent speech. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Strabismus Hypertelorism Poor speech Spasticity Epileptic encephalopathy Cerebral cortical atrophy

Rare Symptoms - Less than 30% cases


Coarse facial features Stereotypy Behavioral abnormality Encephalopathy Postnatal microcephaly Delayed ability to walk Generalized-onset seizure Inability to walk Intellectual disability, mild Macrotia Neonatal hypotonia Hypsarrhythmia Inferior vermis hypoplasia Plagiocephaly Cerebellar atrophy Atrophy/Degeneration affecting the brainstem Intellectual disability, severe EEG abnormality Brachycephaly Aggressive behavior Autistic behavior Downslanted palpebral fissures Hypermetropia Epicanthus Generalized tonic-clonic seizures with focal onset Abnormality of the head Partial agenesis of the corpus callosum Focal impaired awareness seizure Focal-onset seizure Muscle weakness Dystonia Hydrocephalus Motor delay Scoliosis Myoclonus Agenesis of corpus callosum Severe global developmental delay Generalized tonic-clonic seizures Aganglionic megacolon Adducted thumb Cerebellar hypoplasia Developmental regression Hypoplasia of the corpus callosum Epileptic spasms Polymicrogyria Wide mouth Micropenis Anteverted nares Ventriculomegaly Cryptorchidism Elevated alkaline phosphatase Feeding difficulties Tented upper lip vermilion Macroglossia Wide nasal bridge Long face Protruding ear Hyperactivity Short palm Long philtrum Growth delay Talipes Short stature Multifocal seizures Multifocal epileptiform discharges Cerebral visual impairment Delayed myelination Unsteady gait Cerebral atrophy Midface retrusion Visual impairment Overlapping toe Cerebral palsy Generalized myoclonic seizures Abnormality of movement Thin upper lip vermilion Hypotelorism



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