Motor delay, and Corneal opacity

Diseases related with Motor delay and Corneal opacity

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


Top matches:

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (Beltran-Valero de Bernabe et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5 Is also known as walker-warburg syndrome or muscle-eye-brain disease, fkrp-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Cataract
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5

Low match BILATERAL STRIOPALLIDODENTATE CALCINOSIS


Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.

BILATERAL STRIOPALLIDODENTATE CALCINOSIS Is also known as cerebrovascular ferrocalcinosis|primary familial brain calcification|ferrocalcinosis, cerebrovascular|pfbc|bspdc|striopallidodentate calcinosis, bilateral|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset|basal ganglia calcification, id

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL STRIOPALLIDODENTATE CALCINOSIS

Low match FARBER DISEASE


Farber disease is a rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.

FARBER DISEASE Is also known as acid ceramidase deficiency|ac deficiency|farber lipogranulomatosis|ceramidase deficiency|farber disease|n-laurylsphingosine deacylase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FARBER DISEASE

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Other less relevant matches:

Low match ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME


Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.

ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME Is also known as gillespie syndrome|aniridia, cerebellar ataxia, and mental retardation

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME

Low match MOEBIUS SYNDROME


Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.

MOEBIUS SYNDROME Is also known as mÖbius syndrome|congenital facial diplegia

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Muscular hypotonia
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MOEBIUS SYNDROME

Low match KNOBLOCH SYNDROME


Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

Low match WARBURG MICRO SYNDROME 1; WARBM1


Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010). Genetic Heterogeneity of Warburg Micro SyndromeWarburg Micro syndrome-2 (WARBM2 ) is caused by mutation in the RAB3GAP2 gene (OMIM ) on chromosome 1q41. WARBM3 (OMIM ) is caused by mutation in the RAB18 gene (OMIM ) on chromosome 10p12. WARBM4 (OMIM ) is caused by mutation in the TBC1D20 gene (OMIM ) on chromosome 20p13.See also Martsolf syndrome (OMIM ), a clinically overlapping but milder autosomal recessive disorder caused by autosomal recessive mutation in the RAB3GAP2 gene.Handley et al. (2013) provided an overview of the disease variants identified in the RAB3GAP1, RAB3GAP2, and RAB18 genes, noting that a total of 144 families with WARBM and 9 families with Martsolf syndrome had been studied. Mutations were identified in RAB3GAP1 in 41% of cases, in RAB3GAP2 in 7% of cases, and in RAB18 in 5% of cases. Although RAB18 had not been linked to RAB3 pathways, Handley et al. (2013) stated that mutations in all 3 genes cause an indistinguishable phenotype, making it likely that there is some functional overlap.

WARBURG MICRO SYNDROME 1; WARBM1 Is also known as micro syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 1; WARBM1

Low match ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME


Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.

ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME Is also known as aeg syndrome|anophthalmia, clinical, with associated anomalies|anophthalmia-esophageal-genital syndrome|microphthalmia and esophageal atresia syndrome|mcops3|syndromic microphthalmia type 3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME

Low match FRANK-TER HAAR SYNDROME


Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome; see this term) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.

FRANK-TER HAAR SYNDROME Is also known as ter haar syndrome|borrone dermatocardioskeletal syndrome|melnick-needles syndrome, autosomal recessive, formerly

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FRANK-TER HAAR SYNDROME

Low match MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7


Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.

MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 Is also known as beta-glucuronidase deficiency|mps vii|sly syndrome|gusb deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7

Top 5 symptoms//phenotypes associated to Motor delay and Corneal opacity

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

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

Uncommon Symptoms - Between 30% and 50% cases


Cataract Abnormal facial shape Congenital cataract Seizures Epicanthus Visual impairment Coloboma Muscular hypotonia Hydrocephalus Hepatomegaly Cognitive impairment Talipes equinovarus Glaucoma High palate Ataxia Micrognathia Hearing impairment Cerebral atrophy Muscular hypotonia of the trunk Mandibular prognathia Cerebellar atrophy Hypoplasia of the corpus callosum Ptosis Strabismus Mask-like facies Osteoporosis Kyphosis Nystagmus Microcephaly Kyphoscoliosis Flexion contracture Microphthalmia Pachygyria Growth delay Dilatation Cerebellar hypoplasia Wide nasal bridge

Rare Symptoms - Less than 30% cases


Intellectual disability, severe Intellectual disability, mild Agenesis of corpus callosum Anteverted nares Downslanted palpebral fissures Optic atrophy Cerebral cortical atrophy Deeply set eye Brachycephaly Hypertonia Single transverse palmar crease Genu valgum Neonatal hypotonia Nonimmune hydrops fetalis Hip dysplasia Hydrops fetalis Gingival overgrowth Ascites Joint stiffness Severe short stature Hepatosplenomegaly Splenomegaly Edema Failure to thrive Posteriorly rotated ears Hirsutism Cryptorchidism Spasticity Hypogonadotrophic hypogonadism Retrognathia Polymicrogyria Postnatal growth retardation Abnormal heart morphology Ventricular septal defect Low-set ears Patent ductus arteriosus Cortical dysplasia Visual loss Midface retrusion Spastic tetraplegia Depressed nasal bridge Metatarsus adductus Arthrogryposis multiplex congenita Delayed eruption of teeth Facial palsy Hypogonadism Spastic diplegia Brachydactyly Hypertrichosis Tetraplegia Scoliosis Hypertelorism Abnormality of the skeletal system Hernia Inguinal hernia Skeletal dysplasia Coarse facial features Umbilical hernia Clinodactyly of the 5th finger Micropenis Broad-based gait Mental deterioration Thoracolumbar kyphosis Hyperreflexia Dysarthria High myopia Vertigo Retinal detachment Gait ataxia Slurred speech Severe global developmental delay Tremor Dysphagia Neurological speech impairment Respiratory distress Respiratory insufficiency Myopia Abnormality of movement Abnormal cerebellum morphology Spondyloepiphyseal dysplasia Hyperactive deep tendon reflexes Mild short stature Hypoplasia of penis Abnormal heart valve morphology Abnormality of the genital system Specific learning disability Growth hormone deficiency Hypoplasia of the odontoid process Thoracic kyphosis Spinal cord compression Iris coloboma Pleural effusion Optic nerve hypoplasia Heterotopia Esophageal atresia Butterfly vertebrae Periventricular leukomalacia Gonadotropin deficiency Rib fusion 11 pairs of ribs Missing ribs Pterygium Sclerocornea Increased number of teeth Abnormal vertebral morphology Vertebral fusion Tracheoesophageal fistula Anophthalmia Chorioretinal coloboma Patent foramen ovale Dysostosis multiplex Holoprosencephaly Hemivertebrae Thoracolumbar scoliosis Genu recurvatum Hypospadias J-shaped sella turcica Progressive muscle weakness Postnatal microcephaly Thoracic kyphoscoliosis Tetraparesis Short palpebral fissure Convex nasal ridge Delayed myelination Brain atrophy Microcornea Spastic tetraparesis Narrow greater sacrosciatic notches Joint hypermobility Heparan sulfate excretion in urine Snoring Pseudoarthrosis Dermatan sulfate excretion in urine Anterior beaking of lumbar vertebrae Decreased pulmonary function Proximal tapering of metacarpals Cerebral visual impairment Cerebral palsy Broad ribs Acetabular dysplasia Frontal bossing Recurrent ear infections Anterior pituitary hypoplasia Pulmonary insufficiency Sensorineural hearing impairment Microphakia Facial hypertrichosis Posterior synechiae of the anterior chamber Posterior uveitis Hyperglycinuria Hyperextensible skin Anteverted ears Abnormal pupil morphology Retinal coloboma Enlarged cisterna magna External genital hypoplasia Neurodevelopmental delay Prominent sternum Overlapping toe Bilateral cryptorchidism Recurrent upper respiratory tract infections Lumbar hyperlordosis Widely spaced teeth Bowing of the long bones Gynecomastia Multiple skeletal anomalies Wide anterior fontanel Broad clavicles Prominent coccyx Short phalanx of finger Serpentine fibula Thickened skin Interphalangeal joint contracture of finger Short chin Mitral valve prolapse Dental malocclusion Full cheeks Broad nasal tip Thick vermilion border Cortical irregularity Anterior concavity of thoracic vertebrae Short palm Macrotia Wormian bones Hyperplasia of the maxilla Macrocephaly Flat occiput Premature loss of teeth Megalocornea Aseptic necrosis Congenital glaucoma Delayed cranial suture closure Flared metaphysis Abnormally large globe Tricuspid regurgitation Acne Osteolysis Beaking of vertebral bodies Concave nasal ridge Buphthalmos Cholelithiasis Anterior segment developmental abnormality Vacuolated lymphocytes Short long bone Broad alveolar ridges Abnormality of the metacarpal bones Smooth philtrum Broad forehead Opacification of the corneal stroma Cervical hemivertebrae Prominent forehead Pectus excavatum Facial asymmetry Abnormality of cardiovascular system morphology Congestive heart failure Thick eyebrow Neurodegeneration Proximal esophageal atresia Glandular hypospadias Proptosis Hypothalamic hamartoma Multiple impacted teeth Absent gallbladder Macroglossia Vertebral hypoplasia Webbed neck Double outlet right ventricle Cardiac arrest Supernumerary ribs Respiratory failure High forehead Short philtrum Intellectual disability, moderate Short neck Cardiomyopathy Short nose Recurrent infections Arrhythmia Dyspnea Polyhydramnios Abnormality of the nervous system Hypertrophic cardiomyopathy Camptodactyly of finger Osteopenia Hyperlordosis Wide mouth Respiratory tract infection Pectus carinatum Platyspondyly Protruding ear Abnormality of the pinna Camptodactyly Poor speech Thin vermilion border Narrow face Narrow mouth Frontotemporal dementia Subcutaneous hemorrhage Mood swings Alcoholism Pseudohypoparathyroidism Orofacial dyskinesia Focal dystonia Calcinosis Abnormal lower motor neuron morphology Lewy bodies Progressive encephalopathy Focal motor seizures Bipolar affective disorder Basal ganglia calcification Abnormality of neuronal migration Athetosis Emotional lability Oral-pharyngeal dysphagia Dysdiadochokinesis Schizophrenia Muscle stiffness Clumsiness Limb dysmetria Micrographia Progressive neurologic deterioration Subcutaneous nodule Weak cry Pulmonary fibrosis Decreased muscle mass Rheumatoid arthritis Laryngomalacia Abnormality of vision Spontaneous abortion Hoarse voice Decreased liver function Nephropathy Progressive choreoathetosis Irritability Abnormality of the eye Arthritis Jaundice Arthralgia Recurrent respiratory infections Anemia Dense calcifications in the cerebellar dentate nucleus Calcification of the small brain vessels Pill-rolling tremor Choreoathetosis Psychosis Juvenile rheumatoid arthritis Lissencephaly Severe hydrocephalus Agyria Cerebellar cyst Type II lissencephaly Cerebellar dysplasia Aqueductal stenosis Hypoplasia of the pons Hypoplasia of the brainstem Congenital muscular dystrophy Severe muscular hypotonia Hypertension Left ventricular hypertrophy Ventricular hypertrophy Intellectual disability, profound Dandy-Walker malformation Abnormality of skin pigmentation Abnormality of the cerebral white matter Muscular dystrophy Elevated serum creatine phosphokinase Hyporeflexia Feeding difficulties Pain Intrauterine growth retardation Abnormality of extrapyramidal motor function Dysmetria Bradykinesia Cerebral calcification Neuronal loss in central nervous system Memory impairment Urinary incontinence Chorea Gliosis Parkinsonism Postural instability Dyskinesia Abnormal pyramidal sign Gait disturbance Abnormality of the liver Paralysis Rigidity Dementia Encephalopathy Depressivity Thrombocytopenia Headache Dystonia Fatigue Joint swelling Histiocytosis Upslanted palpebral fissure Progressive visual loss Dextrocardia Ectopia lentis Pyloric stenosis Corneal dystrophy Macular degeneration Horizontal nystagmus Abnormality of the hair Encephalocele Thin skin Vesicoureteral reflux Absent septum pellucidum Bulbous nose Retinal degeneration Joint hyperflexibility Leukemia Nyctalopia Alopecia Blindness Aplasia of the pectoralis major muscle Aplasia/Hypoplasia of the tongue Aplasia/Hypoplasia involving the metacarpal bones Chorioretinal atrophy Occipital encephalocele Absent hand Lymphangioma Long philtrum Muscle weakness Cephalocele Bifid ureter Occipital meningocele Peripapillary atrophy Exudative retinal detachment Cerebellar malformation Abnormal vitreous humor morphology Phthisis bulbi Band keratopathy Aplasia cutis congenita Lens luxation Macular hypoplasia Total anomalous pulmonary venous return Aplasia cutis congenita of scalp Anomalous pulmonary venous return Large forehead Calvarial skull defect Vitreoretinopathy Meningocele Acute lymphoblastic leukemia Abnormality of the sense of smell Breast aplasia Psychomotor deterioration Apraxia Hypoplasia of the iris Aniridia Brisk reflexes Postural tremor Bilateral ptosis Poor head control Low anterior hairline Limb ataxia Involuntary movements Hypopigmentation of the skin Hypoplasia of the fovea High, narrow palate Unsteady gait Pulmonic stenosis Synophrys Reduced visual acuity Absent speech Lipogranulomatosis Periarticular subcutaneous nodules Cherry red spot of the macula Hoarse cry Hearing abnormality Speech apraxia Abnormality of the ulna Ophthalmoplegia Blepharitis Aplasia/Hypoplasia of the radius Aplasia/Hypoplasia of the thumb Multiple cafe-au-lait spots Abnormality of the voice Reduced number of teeth Cranial nerve paralysis Open mouth Microdontia Everted lower lip vermilion Finger syndactyly Titubation Feeding difficulties in infancy Autism Skeletal muscle atrophy Cleft palate Frontal cortical atrophy Truncal titubation Craniofacial asymmetry Scanning speech Broad distal phalanx of finger Abnormality of the pulmonary artery Anterior beaking of lower thoracic vertebrae



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