Intellectual disability, severe, and Small hand

Diseases related with Intellectual disability, severe and Small hand

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

Top matches:

X-linked intellectual disability, Stocco Dos Santos type is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localised to the Xp11.2 region.

X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE Is also known as mental retardation, x-linked, stocco dos santos type

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE

High match MONOSOMY 5P

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

MONOSOMY 5P Is also known as cri du chat syndrome|deletion 5p

Related symptoms:

  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 5P

Other less relevant matches:

HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS Is also known as aqueductal stenosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LOPES-MACIEL-RODAN SYNDROME; LOMARS

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

MRD13 is an autosomal dominant form of mental retardation associated with variable neuronal migration defects resulting in cortical malformations. More variable features include early-onset seizures and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities (summary by Willemsen et al., 2012 and Poirier et al., 2013).

MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13 Is also known as mental retardation, autosomal dominant 13, with neuronal migration defects

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13

High match ALG13-CDG

ALG13-CDG is a form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).

ALG13-CDG Is also known as cdg syndrome type is|congenital disorder of glycosylation type is|cdg1s|cdg-is|congenital disorder of glycosylation type 1s

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALG13-CDG

Early infantile epileptic encephalopathy-2 is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in mental retardation and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome (OMIM ), but EIEE2 is considered to be a distinct entity (summary by Fehr et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY Is also known as issx2|cdkl5 deficiency disorder|infantile spasm syndrome, x-linked 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY

X-linked intellectual disability-psychosis-macroorchidism syndrome is characterised by the association of moderate intellectual deficit with manic-depressive psychosis, pyramidal signs and macroorchidism. It has been described in 10 males. The syndrome is transmitted as an X-linked trait and has been associated with a mutation in the MECP2 gene, localised to segment 28 of the long arm of the X chromosome (Xq28).

X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME Is also known as lindsay-burn syndrome|mental retardation, x-linked 79|mrx79|ppmx|mental retardation, x-linked, with spasticity|mrx16|ppm-x|mental retardation with psychosis, pyramidal signs, and macroorchidism|mental retardation, x-linked 16

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME

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

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Hypertelorism Bruxism Short foot Kyphosis Abnormal pyramidal sign Short stature Inability to walk Tremor Cerebral atrophy Focal-onset seizure Abnormal facial shape High palate Muscular hypotonia Severe global developmental delay Coarse facial features Delayed speech and language development Cognitive impairment Short neck Strabismus Encephalopathy Developmental regression Hyporeflexia Spasticity EEG abnormality Cerebellar atrophy

Rare Symptoms - Less than 30% cases

Gait ataxia Cerebellar hypoplasia Adducted thumb Dystonia Tetraparesis Hypoplasia of the corpus callosum Dysphagia Feeding difficulties Muscular hypotonia of the trunk Spastic tetraparesis Ataxia Prominent forehead Heterotopia Epileptic encephalopathy Postnatal microcephaly Apraxia Intellectual disability, mild Poor eye contact Infantile spasms Cerebral visual impairment Clumsiness Hypsarrhythmia Abnormality of extrapyramidal motor function Delayed myelination Global brain atrophy Sleep disturbance Anteverted nares Macrocephaly Flexion contracture Spastic tetraplegia Tetraplegia Deeply set eye Kyphoscoliosis Gait disturbance Cortical dysplasia Spastic paraplegia Short palm Depressed nasal bridge Babinski sign Long philtrum Downslanted palpebral fissures Macrotia Intellectual disability, profound Microretrognathia Hirsutism Gastroesophageal reflux Nystagmus Hyperreflexia Hydrocephalus Waddling gait Poor speech Epicanthus Talipes equinovarus Self-mutilation Pain Micropenis Narrow palate Aggressive behavior Thick vermilion border Broad forehead Respiratory failure Myoclonus Constipation Blindness Abnormality of lateral ventricle Abnormality of brain morphology Type I transferrin isoform profile Kinetic tremor Recurrent infections Narrow palpebral fissure Blepharophimosis Autism Poor head control Short chin Hand tremor Horizontal nystagmus Generalized myoclonic seizures Decreased body weight Thick eyebrow Abnormal bleeding High, narrow palate Tapered finger Joint stiffness Sloping forehead Restlessness Psychosis Choreoathetosis Spastic gait Paraparesis Spastic paraparesis Drooling Progressive spasticity Poor coordination Paraplegia Facial hypotonia Macroorchidism Shuffling gait Slender build Excessive salivation Progressive spastic paraparesis Mania Parkinsonism Genu valgum Mandibular prognathia Infantile encephalopathy Thick lower lip vermilion Optic atrophy Progressive microcephaly Loss of consciousness Hyperventilation Developmental stagnation Mood swings Multifocal seizures Pes cavus Thoracolumbar kyphoscoliosis EEG with generalized slow activity Growth delay Micrognathia Cataract Abnormality of the dentition Pneumonia Stereotypy Hypoplasia of the brainstem Hepatomegaly Caudate atrophy Bradykinesia High myopia Abnormality of the voice Focal impaired awareness seizure Ankle clonus Central hypotonia Hearing impairment Chorea Preauricular skin tag Sensorineural hearing impairment Round face Recurrent fractures Dysarthria Joint hyperflexibility High pitched voice Unsteady gait Low-set, posteriorly rotated ears Visceromegaly Holoprosencephaly Increased intracranial pressure Bilateral cryptorchidism Hemiplegia/hemiparesis Absent septum pellucidum Aqueductal stenosis Oxycephaly Abnormality of bone mineral density Esodeviation Flexion contracture of thumb Agenesis of corpus callosum Myopia Hypertonia Cryptorchidism Cat cry Finger syndactyly Dysmetria Visual impairment Generalized-onset seizure Abnormality of the foot Peripheral axonal neuropathy Polymicrogyria Downturned corners of mouth Everted lower lip vermilion Hyperactivity Pachygyria Hip dislocation Short toe Plagiocephaly Retrognathia Toe walking Broad palm Low-set ears Wide mouth Brachycephaly Inguinal hernia Dysdiadochokinesis Brain atrophy Intention tremor Abnormality of cardiovascular system morphology Truncal ataxia Intellectual disability, progressive Lissencephaly Intrauterine growth retardation Ventriculomegaly Thoracic scoliosis Thoracic kyphosis Abnormality of the neck Atrophy of the dentate nucleus Aplasia of the inferior half of the cerebellar vermis Wide nasal bridge Peripheral neuropathy Juvenile cataract


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