Motor delay, and Aganglionic megacolon

Diseases related with Motor delay and Aganglionic megacolon

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


Top matches:

Medium match HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3


Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase (summary by Hansen et al., 2013). However, the severity of the disorder can also vary to include milder intellectual disability (Krawitz et al., 2013). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3 Is also known as mental retardation, autosomal recessive 17|mrt21|glycosylphosphatidylinositol biosynthesis defect 8|gpibd8|mrt17|mental retardation, autosomal recessive 21

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3

Medium match X-LINKED CREATINE TRANSPORTER DEFICIENCY


X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.

X-LINKED CREATINE TRANSPORTER DEFICIENCY Is also known as slc6a8 deficiency|mental retardation, x-linked, with creatine transport deficiency|creatine deficiency syndrome, x-linked|mental retardation, x-linked, with seizures, short stature, and midface hypoplasia|creatine transporter deficiency|creatine transport

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED CREATINE TRANSPORTER DEFICIENCY

Medium match X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA


X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.

X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA Is also known as xlisg|xlag (x-linked lissencephaly with abnormal genitalia) syndrome|lissencephaly, x-linked, with ambiguous genitalia|x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome|xlag|x-linked lissencephaly with ambiguous genitalia

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA

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Other less relevant matches:

Medium match JOUBERT SYNDROME WITH RENAL DEFECT


Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.

JOUBERT SYNDROME WITH RENAL DEFECT Is also known as js-r

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH RENAL DEFECT

Medium match PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE


Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.

PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE Is also known as neurologic waardenburg-shah syndrome|waardenburg-shah syndrome, neurologic variant|pcwh|ws4 plus

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE

Medium match PITT-HOPKINS SYNDROME


Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.

PITT-HOPKINS SYNDROME Is also known as encephalopathy, severe epileptic, with autonomic dysfunction|mental retardation, syndromal, with intermittent hyperventilation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PITT-HOPKINS SYNDROME

Medium match MICROPHTHALMIA, LENZ TYPE


Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly (see these terms)), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms).

MICROPHTHALMIA, LENZ TYPE Is also known as lenz microphthalmia syndrome|lenz dysplasia|lenz microphthalmia|maa, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MICROPHTHALMIA, LENZ TYPE

Medium match MOWAT-WILSON SYNDROME; MOWS


Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (OMIM ) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (OMIM ) located on 10q.

MOWAT-WILSON SYNDROME; MOWS Is also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease|hirschsprung disease-mental retardation syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOWAT-WILSON SYNDROME; MOWS

Medium match X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE


Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.

X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE Is also known as fgs1|keller syndrome|fg syndrome|fgs|x-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|fg syndrome 1|micpch

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE

Low 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

Top 5 symptoms//phenotypes associated to Motor delay and Aganglionic megacolon

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 Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism

Common Symptoms - More than 50% cases


Wide nasal bridge

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability, severe

Common Symptoms - More than 50% cases


Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Absent speech Agenesis of corpus callosum Constipation Spasticity Nystagmus Scoliosis Short stature Cleft palate Feeding difficulties Prominent nasal bridge Ptosis Severe global developmental delay Ataxia Failure to thrive Open mouth Growth delay Aggressive behavior Abnormality of cardiovascular system morphology Strabismus Clinodactyly Brain atrophy Syndactyly Dilatation Aplasia/Hypoplasia of the corpus callosum Neurological speech impairment Anxiety High palate Hypospadias Ventricular septal defect Abnormality of the skeletal system Abnormal facial shape Patent ductus arteriosus Sensorineural hearing impairment Autistic behavior Telecanthus Myopia Iris coloboma Postnatal microcephaly Hydrocephalus Hypertelorism Misalignment of teeth Cognitive impairment Intellectual disability, moderate Hyperactivity Mandibular prognathia Neonatal hypotonia Pes cavus Hypoplasia of the corpus callosum Gait disturbance Pyloric stenosis Behavioral abnormality Cleft upper lip

Rare Symptoms - Less than 30% cases


Joint contracture of the hand Short neck Chorioretinal coloboma Abnormal eyebrow morphology Hypopigmented skin patches Dental crowding Abnormal autonomic nervous system physiology Hypopigmentation of the skin Anal atresia Radial deviation of finger Fine hair Macrotia Autism External ear malformation Abnormal pattern of respiration Breathing dysregulation Epicanthus Oral cleft Apnea Downslanted palpebral fissures Low-set, posteriorly rotated ears Frontal bossing Cerebral cortical atrophy Anteverted nares Abnormal heart morphology Recurrent otitis media Webbed neck Lumbar hyperlordosis Clubbing Finger syndactyly Camptodactyly of finger Coloboma Camptodactyly Hydronephrosis Pectus excavatum Delayed eruption of teeth Microphthalmia Visual impairment Cataract Happy demeanor Supernumerary nipple Cupped ear Self-injurious behavior Gastroesophageal reflux Widely spaced teeth Thick lower lip vermilion Wide intermamillary distance Prominent nose Abdominal distention Single transverse palmar crease Tapered finger Cerebellar hypoplasia Short philtrum Wide mouth Abnormality of the pinna Postnatal growth retardation Partial agenesis of the corpus callosum Posteriorly rotated ears Deeply set eye Self-mutilation Ventriculomegaly Respiratory failure Micrognathia Atrial septal defect Low-set ears High forehead Chronic constipation Absence seizures Ileus Short nose Pachygyria Feeding difficulties in infancy Hypohidrosis Intellectual disability, mild Vomiting Wide anterior fontanel Diarrhea Attention deficit hyperactivity disorder Broad forehead Long face Specific learning disability Long philtrum Prominent forehead Micropenis Pulmonary hypoplasia Depressivity Hydranencephaly Tented upper lip vermilion Fever Elevated alkaline phosphatase Pain Ciliary body coloboma Agenesis of maxillary lateral incisor Abnormal palmar dermatoglyphics Dandy-Walker malformation Abnormality of the cerebral white matter Broad nasal tip Esotropia Sloping forehead Dehydration Tetralogy of Fallot Febrile seizures Focal-onset seizure Otitis media Vesicoureteral reflux Poor speech Everted lower lip vermilion Falls Pulmonic stenosis Pectus carinatum Abnormal cardiac septum morphology Abnormality of the kidney Cerebral atrophy Complete duplication of thumb phalanx Optic nerve coloboma Long thorax High, narrow palate Preauricular skin tag Dystonia Malar flattening Renal hypoplasia Midface retrusion Abnormality of metabolism/homeostasis Microcornea Muscular hypotonia of the trunk Irritability Muscle stiffness Toe syndactyly Narrow chest Hypermetropia Hyperlordosis Ophthalmoplegia Joint hyperflexibility Kyphoscoliosis Glaucoma Hypertonia Bicuspid aortic valve Abnormality of the shoulder Agenesis of permanent teeth Ankyloblepharon Rectal prolapse Shield chest Sclerocornea Down-sloping shoulders Abnormality of the clavicle Hyperphosphatemia Short clavicles Hydroureter Renal hypoplasia/aplasia Spastic diplegia Bilateral cryptorchidism Mild microcephaly Anophthalmia Abnormality of dental morphology Proximal placement of thumb Overfolded helix Delayed speech and language development Coarctation of aorta Abnormality of the genitourinary system Sparse scalp hair Gynecomastia Bowing of the legs Impulsivity Congenital contracture Relative macrocephaly Optic nerve hypoplasia Sacral dimple Plagiocephaly Narrow palate Broad thumb High pitched voice Heterotopia Choanal atresia Split hand Intestinal malrotation Triangular face Downturned corners of mouth Thin vermilion border Unsteady gait Multiple joint contractures Broad hallux Sparse hair Abnormality of the nasopharynx Adducted thumb Muscle weakness Facial wrinkling Auricular pit Postnatal macrocephaly Microtia, first degree Prominent fingertip pads Frontal upsweep of hair Sagittal craniosynostosis Abnormality of the sternum Gastrointestinal dysmotility Delayed closure of the anterior fontanelle Facial hypotonia Megalencephaly Skin tags Thoracic scoliosis Anal stenosis Anteriorly placed anus Dolichocephaly Craniosynostosis Abnormality of the genital system Ectopic kidney Large earlobe Bruxism Abnormality of the gastrointestinal tract Tracheal stenosis Low hanging columella Pulmonary artery stenosis Drowsiness Submucous cleft hard palate Hallux valgus Broad columella Rocker bottom foot Bifid scrotum Aplasia/Hypoplasia of the cerebellum Sparse eyebrow Poor suck Drooling Cutaneous syndactyly Pointed chin Broad hallux phalanx Esodeviation Cleft lip Pulmonary artery sling Joint laxity Rigidity Umbilical hernia Inguinal hernia Optic atrophy Macrocephaly Flexion contracture Aplasia/Hypoplasia of the cerebral white matter Large basal ganglia Prominent nasal tip Abnormal morphology of the hippocampus Abnormal eye morphology Generalized muscle hypertrophy Uplifted earlobe Atypical absence seizures Deep plantar creases Subglottic stenosis Broad eyebrow Clinodactyly of the 5th finger Overhanging nasal tip Joint hypermobility Thin upper lip vermilion Spastic paraparesis Leukodystrophy Spastic tetraplegia Peripheral demyelination Underdeveloped nasal alae Tetraplegia Coma Distal sensory impairment Anosmia Distal amyotrophy Arthrogryposis multiplex congenita Abnormal pyramidal sign Distal muscle weakness Malabsorption Abnormality of the nervous system Hepatosplenomegaly Abdominal pain Torticollis CNS hypomyelination Myoclonus White forelock Spotty hyperpigmentation Decreased lacrimation Cerebral dysmyelination Microcolon White eyebrow White eyelashes Alacrima Intestinal pseudo-obstruction Demyelinating peripheral neuropathy Decreased nerve conduction velocity White hair Heterochromia iridis Blue irides Hypopigmentation of hair Congenital nystagmus Premature graying of hair Intestinal obstruction Portal hypertension Hypogonadism Hyporeflexia Meconium ileus Renal insufficiency Retinal dystrophy Hypoplasia of penis Polymicrogyria Ambiguous genitalia Abnormality of eye movement Abnormality of the eye Chronic diarrhea Lissencephaly Highly arched eyebrow Tremor Infantile spasms Exocrine pancreatic insufficiency Profound global developmental delay Type I lissencephaly Temperature instability Abnormality of temperature regulation Duane anomaly Nephropathy Apraxia Areflexia Hypometric saccades Arrhythmia Splenomegaly Hepatomegaly Peripheral neuropathy Hypertension Gliosis Thickened superior cerebellar peduncle Elongated superior cerebellar peduncle Decreased testicular size Cerebellar vermis hypoplasia Abnormality of the hypothalamus-pituitary axis Biparietal narrowing Nephronophthisis Molar tooth sign on MRI Hand polydactyly Delayed gross motor development Oculomotor apraxia Encephalocele Peripheral hypomyelination Hypoplasia of the cochlea Parkinsonism Aphasia Stereotypy Esophagitis Acrocyanosis Hiatus hernia Hyperventilation Hodgkin lymphoma Dysphasia Exotropia Clubbing of fingers Overlapping toe Narrow face External ophthalmoplegia Cachexia Short metatarsal Incoordination Coarse hair Mutism Echolalia Abnormality of the helix Redundant skin Triangular nasal tip Chorea Delayed myelination Kyphosis Abnormality of the dentition Blindness Choreoathetosis Clumsiness Long upper lip Broad fingertip Thickened helices Intermittent hyperventilation Narrow foot Failure of eruption of permanent teeth Small cerebral cortex Square face Large beaked nose Tall stature Pes valgus Sleep apnea Language impairment Neonatal asphyxia Encephalopathy Underfolded superior helices Pes planus Coarse facial features Gait ataxia Upslanted palpebral fissure Pneumonia Hyperreflexia Talipes equinovarus Abnormality of creatine metabolism Fatigue Depressed nasal bridge Spasmus nutans Long-segment aganglionic megacolon Dysmyelinating leukodystrophy Absent brainstem auditory responses Hypoplasia of the semicircular canal Myelin outfoldings Poor hand-eye coordination Duodenal ulcer Abnormal palate morphology Myopathic facies Intellectual disability, progressive Finger clinodactyly Truncal ataxia Mask-like facies Narrow forehead Cyanosis Convex nasal ridge Athetosis Full cheeks Protruding ear Sleep disturbance Speech apraxia Small hand Thick vermilion border Thick eyebrow Astigmatism Impaired social interactions Urethral stenosis Inferior vermis hypoplasia



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