Cataract, and Poor speech

Diseases related with Cataract and Poor speech

In the following list you will find some of the most common rare diseases related to Cataract and Poor speech that can help you solving undiagnosed cases.


Top matches:

Medium match DYSEQUILIBRIUM SYNDROME


Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

DYSEQUILIBRIUM SYNDROME Is also known as cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome|cerebellar hypoplasia, vldlr-associated|non-progressive cerebellar ataxia-intellectual disability syndrome|cerebellar ataxia and mental retardation with or without quadrupedal loco

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about DYSEQUILIBRIUM SYNDROME

Medium match AGEL AMYLOIDOSIS


AGel amyloidosis is a rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure.

AGEL AMYLOIDOSIS Is also known as amyloid cranial neuropathy with lattice corneal dystrophy|amyloidosis, meretoja type|amyloidosis due to mutant gelsolin|amyloidosis v|familial amyloidosis, finnish type|gelsolin amyloidosis|familial amyloid polyneuropathy type iv|hereditary amyloidosis, f

Related symptoms:

  • Cataract
  • Ptosis
  • Peripheral neuropathy
  • Cardiomyopathy
  • Renal insufficiency


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AGEL AMYLOIDOSIS

Medium match HYPOMYELINATION-CONGENITAL CATARACT SYNDROME


Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.

HYPOMYELINATION-CONGENITAL CATARACT SYNDROME Is also known as hypomyelination and congenital cataract: hcc

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HYPOMYELINATION-CONGENITAL CATARACT SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as dystroglycanopathies (summary by Stevens et al., 2013).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, 12; MDDGA12 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomk-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12

Medium match WILSON-TURNER SYNDROME


Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.

WILSON-TURNER SYNDROME Is also known as wts|mental retardation, x-linked, with gynecomastia and obesity|mrxs6|mental retardation, x-linked, syndromic 6|x-linked intellectual disability-gynecomastia-obesity syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about WILSON-TURNER SYNDROME

Medium match DPAGT1-CDG


DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).

DPAGT1-CDG Is also known as cdg syndrome type ij|cdg-ij|congenital disorder of glycosylation type 1j|cdgij|cdg1j|carbohydrate deficient glycoprotein syndrome type ij|cdg ij|dolichyl-phosphate n-acetylgalactosamine phosphotransferase deficiency|congenital disorder of glycosylation ty

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPAGT1-CDG

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S


Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S Is also known as muscular dystrophy, limb-girdle, type 2s|lgmd2s

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S

Medium match HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6


Hyperphosphatasia with mental retardation syndrome-6 (HPMRS6) is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts. Severity is variable, and the disorder may show a range of phenotypic and biochemical abnormalities, including increased serum alkaline phosphatase levels (summary by Ilkovski et al., 2015). 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 6; HPMRS6 Is also known as gpibd12|glycosylphosphatidylinositol biosynthesis defect 12

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6

Medium match HYPERLYSINEMIA


Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.

HYPERLYSINEMIA Is also known as hyperlysinemia type i|lysine alpha-ketoglutarate reductase deficiency|lysine:alpha-ketoglutarate reductase deficiency|l-lysine:nad-oxido-reductase deficiency|alpha-aminoadipic semialdehyde synthase deficiency|lysine intolerance

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERLYSINEMIA

Medium match COHEN-GIBSON SYNDROME; COGIS


Cohen-Gibson syndrome is an overgrowth disorder characterized by increased somatic parameters apparent from birth and associated with variable intellectual disability. Affected individuals have dysmorphic facial features, advanced bone age, and skeletal abnormalities, including flaring of the metaphyses of the long bones, large hands with long fingers and camptodactyly, and often scoliosis or cervical spine anomalies. Other features may include hypotonia, difficulty walking due to skeletal anomalies, and umbilical hernia (summary by Cooney et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COHEN-GIBSON SYNDROME; COGIS

Top 5 symptoms//phenotypes associated to Cataract and Poor speech

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

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Cataract and Poor speech. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Feeding difficulties Congenital cataract Scoliosis Tremor Flexion contracture Strabismus Muscular hypotonia Elevated serum creatine phosphokinase Short stature Ataxia CNS hypomyelination Myopia Motor delay Cryptorchidism Deeply set eye Muscle weakness Gait disturbance Absent speech Hyperreflexia Dysarthria Spasticity

Rare Symptoms - Less than 30% cases


Micrognathia Nystagmus Intellectual disability, mild Muscular hypotonia of the trunk Developmental regression Cerebral white matter atrophy Difficulty walking Macrocephaly Polyhydramnios Muscular dystrophy Progressive microcephaly Elevated hepatic transaminase Abnormal facial shape Jaundice Brachycephaly Retrognathia Hip dysplasia Thick eyebrow Growth delay Osteopenia Hyperactivity Vomiting Exotropia Depressed nasal bridge Anemia Cerebral atrophy Clinodactyly Bulbous nose Cognitive impairment Intellectual disability, moderate Babinski sign Arachnodactyly Cerebellar atrophy Polyneuropathy Intention tremor Hypoplasia of the brainstem Abnormality of movement Glaucoma Cerebellar hypoplasia Pes planus Truncal ataxia Neonatal hypotonia Ptosis Peripheral neuropathy Anteverted nares Respiratory tract infection Dilatation Inguinal hernia Broad face Abdominal pain Thin nail Short neck Coxa valga Wide mouth Knee flexion contracture Hip contracture Long palpebral fissure 2-3 toe syndactyly Elevated alkaline phosphatase Disproportionate short-limb short stature Capillary hemangioma Hypoplastic iliac wing Long foot Elbow flexion contracture Aspiration Cerebral visual impairment Abnormal lung morphology Narrow forehead High palate Limb undergrowth Intellectual disability, borderline Exophoria Gowers sign Hepatic steatosis Muscle cramps Chorea Waddling gait Focal-onset seizure Narrow foot Hamstring contractures Generalized-onset seizure Apraxia Lower limb spasticity Scapular winging Infantile muscular hypotonia Limb-girdle muscular dystrophy Impulsivity Abnormal levels of creatine kinase in blood Athetosis Adrenal insufficiency Restrictive ventilatory defect Progressive proximal muscle weakness Esophagitis Achalasia Speech apraxia Recurrent ear infections Hyperopic astigmatism Muscle fiber atrophy Alacrima Right ventricular dilatation Long ear Patellar dislocation Spinal cord compression Chronic lung disease Broad neck Hemangioma Wide nasal bridge Downslanted palpebral fissures Abnormality of the skeletal system Respiratory distress Hypoplasia of the corpus callosum Atrial septal defect Long fingers Long philtrum Hernia Depressivity Large hands Patent ductus arteriosus Melanocytic nevus Metaphyseal widening Accelerated skeletal maturation Low-set ears Nevus Broad thumb Mitral regurgitation Small nail Overgrowth Wide intermamillary distance Round face Bifid uvula Macrotia Astigmatism Broad forehead Prominent nasal bridge Camptodactyly Joint laxity Umbilical hernia Epicanthus Cleft palate Large earlobe Spastic tetraparesis Tall stature Thickened helices Enterocolitis Prominent nasal tip Shortening of all distal phalanges of the fingers Echogenic fetal bowel EEG with multifocal slow activity Failure to thrive Behavioral abnormality Rigidity Abnormality of the nervous system Coma Aciduria Tetraparesis Abnormality of the genitourinary system Hypertelorism Cystinuria Hyperlysinemia Oroticaciduria Asthenia Unsteady gait Slender finger Hyperlysinuria Normochromic anemia Optic nerve hypoplasia Tracheomalacia Episodic vomiting Short attention span Enlarged kidney Ectopia lentis Poor coordination Inability to walk Clinodactyly of the 5th finger Carious teeth Lower limb amyotrophy Lattice corneal dystrophy Cardiac amyloidosis Bilateral facial palsy Generalized amyloid deposition Abnormal pyramidal sign Lower limb muscle weakness Abnormal cerebellum morphology Leukodystrophy Decreased motor nerve conduction velocity Axonal degeneration Axonal loss Onion bulb formation Titubation Motor polyneuropathy Loss of ability to walk Facial paralysis Cerebral hypomyelination Truncal titubation Progressive cataract Hearing impairment Sensorineural hearing impairment Ventriculomegaly Hydrocephalus Microphthalmia Agenesis of corpus callosum Reduced visual acuity Coloboma Severe global developmental delay Retinal degeneration Bilateral sensorineural hearing impairment Mild proteinuria Bulbar signs Cerebellar vermis hypoplasia Gaze-evoked nystagmus Skeletal muscle atrophy Intellectual disability, severe Abnormality of metabolism/homeostasis Gait ataxia Abnormality of the eye Dysmetria Progressive cerebellar ataxia Broad-based gait Pachygyria Cerebral palsy Abnormality of vision Dysdiadochokinesis Toe walking Cortical gyral simplification Nonprogressive cerebellar ataxia Abnormality of abdomen morphology Palpitations Amyloidosis Orthostatic hypotension Bulbar palsy Corneal dystrophy Cutis laxa Abnormal autonomic nervous system physiology Nephrotic syndrome Cardiomyopathy Hypotension Everted lower lip vermilion Corneal opacity Paralysis Proteinuria Renal insufficiency High myopia Encephalocele Generalized tonic-clonic seizures Pain Uplifted earlobe Short ear Respiratory insufficiency Hypertonia Aggressive behavior Apnea Single transverse palmar crease Finger clinodactyly Infantile spasms Inverted nipples Hypoproteinemia Skin dimples Type I transferrin isoform profile Reduced antithrombin III activity Hepatomegaly Misalignment of teeth Intrauterine growth retardation Fatigue Myopathy Dystonia Hyporeflexia Constipation Cerebral cortical atrophy Hyperkeratosis EEG abnormality Proximal muscle weakness Myalgia Hyperlordosis Abnormality of the liver Attention deficit hyperactivity disorder Malar prominence Truncal obesity Lissencephaly Hypogonadism Respiratory insufficiency due to muscle weakness Arnold-Chiari malformation Poor head control Congenital muscular dystrophy Occipital encephalocele Hypoventilation Abnormally large globe Retinal coloboma Type II lissencephaly Agyria Cortical cataract Kyphosis Obesity Pes cavus Micropenis Decreased muscle mass Broad nasal tip Emotional lability Prominent supraorbital ridges Hypogonadotrophic hypogonadism Gynecomastia Specific learning disability Decreased testicular size Tapered finger Thin upper lip vermilion Short foot Small hand Delayed puberty Hypermetropia Neurological speech impairment Microtia Spinal instability



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Vesicoureteral reflux, related diseases and genetic alterations Feeding difficulties and Stroke, related diseases and genetic alterations Dysarthria and Jaundice, related diseases and genetic alterations Lymphoma and Tachycardia, related diseases and genetic alterations Lymphoma and Insulin resistance, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more