Motor delay, and Macrotia

Diseases related with Motor delay and Macrotia

In the following list you will find some of the most common rare diseases related to Motor delay and Macrotia that can help you solving undiagnosed cases.


Top matches:

High match MENTAL RETARDATION, X-LINKED 97; MRX97


MENTAL RETARDATION, X-LINKED 97; MRX97 Is also known as mental retardation, x-linked 65|mrx65|mrxz

Related symptoms:

  • Intellectual disability
  • Delayed speech and language development
  • Motor delay
  • Prominent forehead
  • Macrotia


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 97; MRX97

Medium match MENTAL RETARDATION, X-LINKED 9; MRX9


Nonsyndromic mental retardation.

MENTAL RETARDATION, X-LINKED 9; MRX9 Is also known as mental retardation, x-linked 44|mrx44

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Delayed speech and language development


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 9; MRX9

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 58; MRD58


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 58; MRD58

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Other less relevant matches:

Medium match MENTAL RETARDATION, X-LINKED 30; MRX30


MENTAL RETARDATION, X-LINKED 30; MRX30 Is also known as mental retardation, x-linked 47|mrx47

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • High palate


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 30; MRX30

Medium match NDE1-RELATED MICROHYDRANENCEPHALY


NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.

NDE1-RELATED MICROHYDRANENCEPHALY Is also known as hydranencephaly and microcephaly|mhac

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NDE1-RELATED MICROHYDRANENCEPHALY

Medium match NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES; NEDSGA


NEDSGA is an autosomal dominant disorder characterized by global developmental delay apparent from infancy or early childhood, resulting in variable intellectual disability that can range from profound with absent speech to mild with an ability to attend special schools. Most affected individuals show irritability, stiffness, and hypertonia early in life, which progresses to spasticity and impaired gait later. Some patients may develop seizures of variable severity early in life (summary by Martin et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES; NEDSGA

Medium match MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL; CMS1B


Fast-channel congenital myasthenic syndrome (FCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor (AChR) channel, specifically from abnormally brief opening and activity of the channel, with a rapid decay in endplate current and a failure to reach the threshold for depolarization. Treatment with pyridostigmine or amifampridine may be helpful; quinine, quinidine, and fluoxetine should be avoided (summary by Sine et al., 2003 and Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Ptosis
  • High palate


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL; CMS1B

Medium match X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME


X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

Medium match NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL

Medium match DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES; DIDOD


DIDOD is a disorder characterized by global developmental delay apparent from infancy, intellectual disability or learning difficulties, behavioral abnormalities, dysmorphic features, and obesity. The severity of the phenotype and additional features are variable (summary by Jansen et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES; DIDOD

Top 5 symptoms//phenotypes associated to Motor delay and Macrotia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Delayed speech and language development Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Motor delay and Macrotia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


High palate Strabismus Microcephaly Nystagmus Hyperactivity Ventriculomegaly Spasticity Deeply set eye Poor speech Attention deficit hyperactivity disorder Delayed ability to walk Neonatal hypotonia Delayed gross motor development Anteverted nares Intellectual disability, severe Aggressive behavior Ptosis Prominent forehead

Rare Symptoms - Less than 30% cases


Short stature Cognitive impairment Flexion contracture Micrognathia Cerebellar hypoplasia Hypoplasia of the corpus callosum Abnormal facial shape Anxiety Intellectual disability, moderate Thick eyebrow Spastic tetraplegia Cerebral cortical atrophy Absent speech Feeding difficulties Epicanthus Short philtrum Cryptorchidism Thin upper lip vermilion Thick vermilion border Depressed nasal bridge Macrocephaly Autism Autistic behavior Thick lower lip vermilion Long face Hypertelorism Wide mouth Neurological speech impairment Synophrys Upslanted palpebral fissure Easy fatigability Short nose Mandibular prognathia Frontal bossing Dysmetria Triangular face Microphallus Enlarged cisterna magna Prominent nose Focal-onset seizure Tremor Poor eye contact Long nose Dilatation Gait ataxia Hypotelorism External genital hypoplasia Focal impaired awareness seizure Prominent supraorbital ridges Abnormality of the philtrum Micropenis Cerebellar vermis hypoplasia Scrotal hypoplasia Intention tremor Abnormal cerebellum morphology Self-injurious behavior Retrocerebellar cyst Round face Clinodactyly High forehead Blepharophimosis Hypermetropia Thin vermilion border Joint hypermobility Tapered finger Broad-based gait Syndactyly Stereotypy Insulin resistance Cafe-au-lait spot Polycystic ovaries Impulsivity Cavum septum pellucidum Long toe Obesity Long philtrum Infra-orbital crease EEG abnormality Disorganization of the anterior cerebellar vermis Visual impairment Dystonia Cerebral atrophy Midface retrusion Encephalopathy Osteopenia Telecanthus Behavioral abnormality Abnormality of the cerebral white matter Bulbous nose Dyskinesia High, narrow palate Cerebral visual impairment Sparse eyebrow Nasogastric tube feeding Recurrent hand flapping Muscular hypotonia Status epilepticus Ataxia Proptosis Long ear Hyperreflexia Skeletal muscle atrophy Talipes equinovarus Hydrocephalus Agenesis of corpus callosum Prominent nasal bridge Restlessness Small for gestational age Generalized myoclonic seizures Brain atrophy Sloping forehead Tetraparesis Pachygyria Short attention span Agitation Intellectual disability, progressive Facial asymmetry Broad face Intellectual disability, mild Long palpebral fissure Periorbital fullness Abnormality of the distal phalanx of finger Wide nasal bridge Dental crowding Schizophrenia Plagiocephaly Incoordination Flat face Psychosis Open mouth Drooling Knee flexion contracture Poor head control Decreased miniature endplate potentials Poor suck Dysphagia Facial palsy Arthrogryposis multiplex congenita Generalized muscle weakness Progressive muscle weakness Respiratory insufficiency due to muscle weakness Gowers sign Muscle weakness Ophthalmoparesis Bulbar palsy Weak cry Neck muscle weakness Facial diplegia Type 2 muscle fiber atrophy Dysarthria Scoliosis Hypoplasia of the brainstem Severe hydrocephalus Athetosis Multiple joint contractures Generalized amyotrophy Self-mutilation Profound global developmental delay Hydranencephaly Gait disturbance Exaggerated startle response Hypertonia Irritability Inability to walk Tetraplegia Chorea Optic nerve hypoplasia Horizontal eyebrow



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