Intellectual disability, and Smooth philtrum

Diseases related with Intellectual disability and Smooth philtrum

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Abnormal facial shape
  • Behavioral abnormality
  • Upslanted palpebral fissure


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 107; MRX107

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

1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.

DISTAL MONOSOMY 1Q Is also known as telomeric deletion 1q|distal deletion 1q|monosomy 1qter

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about DISTAL MONOSOMY 1Q

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15

High match HISTIDINEMIA

Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.

HISTIDINEMIA Is also known as his deficiency|histidinuria|histidase deficiency|hyperhistidinemia|hal deficiency|histidine ammonia-lyase deficiency

Related symptoms:

  • Intellectual disability
  • Sensorineural hearing impairment
  • Wide nasal bridge
  • Long philtrum
  • Macrotia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HISTIDINEMIA

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE Is also known as bmrs, mkb type|bmrs, maat-kievit-brunner type|blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type|blepharophimosis-mental retardation syndrome, maat-kievit-brunner type|x-linked ohdo syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Micrognathia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

Ververi-Brady syndrome is a disorder characterized by mild developmental delay, mild intellectual disability and speech delay, and mild dysmorphic facial features. Affected individuals can usually attend mainstream schools with support, and may also show autistic features (summary by Ververi et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VERVERI-BRADY SYNDROME; VERBRAS

Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A ), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS ), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).

PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME Is also known as trisomy 17p11.2-p12|dup(17)(p11.2p12)|trisomy 17p11.2p12|yuan-harel-lupski syndrome|17p11.2p12 microduplication syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME

Early infantile epileptic encephalopathy-64 is a neurodevelopmental disorder characterized by onset of seizures usually in the first year of life and associated with intellectual disability, poor motor development, and poor or absent speech. Additional features include hypotonia, abnormal movements, and nonspecific dysmorphic features. The severity is variable: some patients are unable to speak, walk, or interact with others as late as the teenage years, whereas others may have some comprehension (summary by Straub et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64; EIEE64

Top 5 symptoms//phenotypes associated to Intellectual disability and Smooth philtrum

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Thin upper lip vermilion Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability and Smooth philtrum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Depressed nasal bridge Delayed speech and language development Wide nasal bridge Micrognathia Triangular face Thin vermilion border Macrotia Downslanted palpebral fissures Abnormal facial shape Long philtrum Upslanted palpebral fissure Wide nose Prominent nose

Rare Symptoms - Less than 30% cases

Short philtrum Obesity Hypoplasia of the corpus callosum Overweight Truncal obesity Round face Brachycephaly Epicanthus Low-set ears Growth delay Feeding difficulties Ptosis Febrile seizures Hyperactivity Autistic behavior Unsteady gait Absent speech Intellectual disability, moderate Long face Focal-onset seizure Developmental regression Areflexia Peripheral neuropathy High palate Strabismus Failure to thrive Horizontal eyebrow Impaired social interactions Mildly elevated creatine phosphokinase Cupped ear Frequent falls Everted lower lip vermilion Pain Intention tremor Wide mouth Abnormality of the nervous system Intrauterine growth retardation Tremor Autism Broad nasal tip Intellectual disability, mild Elevated serum creatine phosphokinase Falls Onion bulb formation Abnormal heart morphology Demyelinating peripheral neuropathy Hemiparesis Status epilepticus Epileptic encephalopathy Delayed myelination Chorea Inability to walk Generalized tonic-clonic seizures Cerebral cortical atrophy Cerebellar hypoplasia Encephalopathy Dystonia Hypertonia Ventriculomegaly Cognitive impairment Chronic constipation Constipation Syringomyelia Delayed ability to walk Unilateral cleft lip Decreased number of peripheral myelinated nerve fibers Failure to thrive in infancy Decreased nerve conduction velocity Broad-based gait Sensory impairment Distal sensory impairment Poor speech Abnormality of the foot Abnormal cardiac septum morphology Joint laxity Gait ataxia Abnormality of the cerebellar vermis Motor delay Bruxism Prominent forehead Hypoplastic toenails Generalized myoclonic seizures Sensorineural hearing impairment Long eyebrows Broad eyebrow Polyphagia Short chin Pointed chin Dolichocephaly Aggressive behavior Malar flattening Aplasia/Hypoplasia of the corpus callosum Short stature Histidinuria Obsessive-compulsive trait Hyperparathyroidism Unilateral renal agenesis Obsessive-compulsive behavior Nephrocalcinosis Generalized-onset seizure Highly arched eyebrow Anxiety Narrow philtrum Narrow face Mandibular prognathia Behavioral abnormality Short middle phalanx of finger Rounded middle phalanx of finger Mild microcephaly Intellectual disability, severe Slender finger Severe muscular hypotonia Low anterior hairline Progressive microcephaly Postnatal microcephaly Hypotelorism Downturned corners of mouth Cleft upper lip Synophrys Abnormality of the cerebral white matter Cleft lip Neonatal hypotonia Short neck Impaired histidine renal tubular absorption Scrotal hypoplasia Cafe-au-lait spot Decreased body weight Bulbous nose Joint hypermobility Blepharophimosis Carcinoma Coarse facial features Narrow mouth Clinodactyly Cryptorchidism Hearing impairment Limb hypertonia


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