Hyperreflexia, and Hypospadias

Diseases related with Hyperreflexia and Hypospadias

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


Top matches:

Low match MEHMO SYNDROME


MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.

MEHMO SYNDROME Is also known as mental retardation, x-linked, syndromic 25|mental retardation, x-linked, syndromic, borck type|x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|mrxs25|mrxsbrk|mrxs20|mental retardation, x-linked, syndromic 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEHMO SYNDROME

Low match PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME


Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.

PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME Is also known as palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME

Low match SOTOS SYNDROME


Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.

SOTOS SYNDROME Is also known as cerebral gigantism

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about SOTOS SYNDROME

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Other less relevant matches:

Low match ATELOSTEOGENESIS, TYPE I; AO1


Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

Low match MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1


The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women (Abidi et al., 2005). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.X-linked alpha-thalassemia/mental retardation syndrome (ATR-X; {301040}) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes.

MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 Is also known as smith-fineman-myers syndrome 1|chudley-lowry syndrome|holmes-gang syndrome|mental retardation, x-linked, with growth retardation, deafness, and microgenitalism|xlmr-hypotonic facies syndrome|carpenter-waziri syndrome|sfms|sfm1|jms|juberg-marsidi syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1

Low match RENPENNING SYNDROME 1; RENS1


Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.

RENPENNING SYNDROME 1; RENS1 Is also known as mrxs3|mental retardation, x-linked, syndromic 3|shs|mental retardation, x-linked, renpenning type|golabi-ito-hall syndrome|mental retardation, x-linked 55|mental retardation, x-linked, syndromic 8|mrxs8|mrx55|mental retardation, x-linked, with spastic dip

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about RENPENNING SYNDROME 1; RENS1

Low match VICI SYNDROME


Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

Low match FLOATING-HARBOR SYNDROME


Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

Low match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Low match RUBINSTEIN-TAYBI SYNDROME 1; RSTS1


Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006).Floating-Harbor syndrome (OMIM ), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (OMIM ), a coactivator for CREBBP. Genetic Heterogeneity of Rubinstein-Taybi SyndromeRubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2 ) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (OMIM ) on chromosome 22q13 (Bartsch et al., 2010).See also chromosome 16p13.3 deletion syndrome (OMIM ), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.

RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 Is also known as broad thumbs and great toes, characteristic facies, and mental retardation|rubinstein syndrome|rsts|broad thumb-hallux syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

Top 5 symptoms//phenotypes associated to Hyperreflexia and Hypospadias

Symptoms // Phenotype % cases
Micrognathia Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Abnormal facial shape Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Hyperreflexia and Hypospadias. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Short stature

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


High palate

Common Symptoms - More than 50% cases


Cleft palate

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Epicanthus Failure to thrive Scoliosis Thin upper lip vermilion Constipation Clinodactyly of the 5th finger Wide nasal bridge Ptosis Frontal bossing Spasticity Anteverted nares Atrial septal defect Neoplasm Feeding difficulties in infancy Ventriculomegaly Postnatal growth retardation Upslanted palpebral fissure Cataract Muscular hypotonia Abnormal heart morphology Respiratory distress Hypertonia Hyperactivity Brachydactyly Gastroesophageal reflux Feeding difficulties Macrotia Mandibular prognathia EEG abnormality Intellectual disability, severe Brachycephaly Short thumb Exotropia Short upper lip Talipes equinovarus Tethered cord Clinodactyly Diabetes mellitus Joint stiffness Intrauterine growth retardation Hypogonadism Behavioral abnormality Depressed nasal bridge Pneumonia Proptosis Malar flattening Deeply set eye Vomiting Short neck Abnormality of the skeletal system Anxiety Respiratory tract infection Patent ductus arteriosus Nystagmus Otitis media Sensorineural hearing impairment Delayed skeletal maturation Pes planus Downslanted palpebral fissures Dolichocephaly Coarse facial features Abnormality of the kidney Severe short stature Macrocephaly Tapered finger Drooling Poor speech Small for gestational age Thick vermilion border Downturned corners of mouth Prominent nose Triangular face Widely spaced teeth Open mouth Autism Long philtrum Obesity Hypoplasia of the maxilla

Rare Symptoms - Less than 30% cases


Telecanthus Hypertrophic cardiomyopathy Posteriorly rotated ears Umbilical hernia Wide mouth Optic atrophy Abnormality of cardiovascular system morphology Leukemia Neutropenia Hypopigmentation of the skin Kyphoscoliosis Cerebral cortical atrophy Leukopenia Clubbing Coarctation of aorta Weight loss Hypertension Intellectual disability, moderate Polyhydramnios Hirsutism Dental malocclusion Low posterior hairline Aspiration Short palpebral fissure Broad thumb Long eyelashes Impulsivity Short attention span Abnormality of the foot Recurrent urinary tract infections Spastic paraplegia Immunodeficiency Agenesis of corpus callosum Coloboma Intellectual disability, mild Microphthalmia Pectus excavatum Nasal speech Poor suck Tetralogy of Fallot Short philtrum Ventricular septal defect Hypermetropia Anal atresia Headache Bulbous nose Iris coloboma Abnormality of the dentition High, narrow palate Sprengel anomaly Abnormality of the thumb Paraplegia Decreased testicular size Dilatation Thick eyebrow Respiratory failure Congestive heart failure Joint laxity Broad columella Aganglionic megacolon Narrow forehead Abnormality of blood and blood-forming tissues Renal hypoplasia Cafe-au-lait spot Abnormality of the genital system Narrow face Increased body weight Infantile muscular hypotonia Mild short stature Narrow mouth 11 pairs of ribs Hypothyroidism Finger clinodactyly Prominent forehead Joint hypermobility Highly arched eyebrow Recurrent respiratory infections Apraxia Abnormal vertebral morphology Lower limb hypertonia Motor delay Conductive hearing impairment Craniosynostosis Abnormal cardiac septum morphology Genu valgum Vesicoureteral reflux Abnormality of the fingernails Cerebellar hypoplasia Depressed nasal tip Abnormality of immune system physiology Muscular hypotonia of the trunk Hypoplasia of the corpus callosum Babinski sign Micropenis Acidosis Hypoglycemia Aggressive behavior Cleft lip External genital hypoplasia Severe global developmental delay Long face Inability to walk Broad nasal tip Sloping forehead Hypoplasia of penis Progressive microcephaly Aplasia/Hypoplasia of the corpus callosum Delayed myelination Midface retrusion Flexion contracture Recurrent infections Gait disturbance Short nose Neoplasm of head and neck Renal insufficiency Large foramen magnum Narrow maxilla Premature thelarche Wide anterior fontanel Abnormality of the liver Irritability Abnormality of the eye Carcinoma Thrombocytopenia Low anterior hairline Hydrocephalus Dental crowding Narrow palate Fatigue Fever Hepatomegaly Visual impairment Anemia Ataxia Mesocardia Generalized cerebral atrophy/hypoplasia Abnormal soft palate morphology Broad fingertip Stereotypy Toe syndactyly Agoraphobia Hypoplasia of dental enamel Horseshoe kidney Bone marrow hypocellularity Hypergonadotropic hypogonadism Mitral regurgitation Spina bifida Insulin resistance Dyscalculia Duplication of phalanx of hallux Telangiectasia Vascular ring Choanal atresia Pancytopenia Finger syndactyly Oligohydramnios Renal agenesis Bifid uterus Lymphoma Bruising susceptibility Abnormality of skin pigmentation Vertigo Astigmatism Facial asymmetry Enlarged naris Hip dislocation Curved fingers Congenital posterior urethral valve Epididymal cyst Recurrent upper respiratory tract infections Nephrocalcinosis Generalized hirsutism Enlarged tonsils Recurrent otitis media Bicuspid aortic valve Interphalangeal joint contracture of finger Microdontia Underdeveloped nasal alae Papillary cystadenoma of the epididymis Small hand Thin vermilion border Abnormality of the voice Smooth philtrum Joint hyperflexibility Malabsorption Neurological speech impairment Prominent nasal bridge Camptodactyly of finger High axial triradius Abnormal number of teeth Broad hallux Radial deviation of thumb terminal phalanx Arthritis Abnormality of the hand Trigonocephaly Deviated nasal septum Villous atrophy Azoospermia Congenital pseudoarthrosis of the clavicle Pseudoarthrosis Persistent left superior vena cava Varicocele Expressive language delay Spinal dysraphism Stiff neck Hyperextensibility of the finger joints Speech apraxia Enlarged joints Enuresis Language impairment Talon cusp Abnormality of the clavicle Short columella Cone-shaped epiphyses of the phalanges of the hand Lipoma Short clavicles Proportionate short stature Celiac disease High pitched voice Preauricular pit Spina bifida occulta Type I diabetes mellitus Cranial nerve paralysis Neurofibromas Arrhythmia Aplasia/Hypoplasia of fingers Patellar dislocation Pyridoxine-responsive sideroblastic anemia Self-mutilation Obstructive sleep apnea Capillary hemangioma Abnormality of the preputium Dysphagia Abnormal localization of kidney Syndactyly Abnormal renal morphology Glaucoma Overweight Low hanging columella Abnormal aortic valve morphology Hypoplastic iliac wing Meningioma Polydactyly Abnormality of the hypothalamus-pituitary axis Dyslexia Flared iliac wings Abnormality of refraction Acute monocytic leukemia Avascular necrosis of the capital femoral epiphysis Abnormality of femur morphology Poor coordination Aplasia/Hypoplasia of the uvula Abnormality of the testis Clubbing of toes Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Dislocated radial head Partial duplication of thumb phalanx Shawl scrotum Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Reticulocytopenia Abnormality of chromosome stability Neuroblastoma Bicornuate uterus Abnormality of the uterus Convex nasal ridge Hyperinsulinemia Hypoplasia of the ulna Parietal foramina Glucose intolerance Tracheoesophageal fistula Triphalangeal thumb Abnormality of the pinna Myelodysplasia Pulmonic stenosis Truncal obesity Unsteady gait Bimanual synkinesia Single transverse palmar crease Abnormality of the cervical spine Recurrent fractures Delayed cranial suture closure Frontal upsweep of hair Prominent fingertip pads Duane anomaly Keloids Abnormality of the urinary system Abnormality of vision Reduced bone mineral density Hypopigmented skin patches Renal hypoplasia/aplasia Chorioretinal dystrophy Squamous cell carcinoma Congenital glaucoma Aplastic anemia Irregular hyperpigmentation Pheochromocytoma Abnormality of the upper limb Medulloblastoma B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Abnormal cornea morphology Abnormal eyelid morphology Chromosome breakage Hearing abnormality External ear malformation Aplasia/Hypoplasia of the radius Ectopic kidney Absent radius Acute myeloid leukemia Multiple cafe-au-lait spots Myeloid leukemia Nasolacrimal duct obstruction Rhabdomyosarcoma Absent thumb Broad distal phalanx of finger Phonophobia Hydroureter Retrognathia Facial grimacing Laryngomalacia Phimosis Hydronephrosis Abnormality of the outer ear Loss of speech Short humerus Atonic seizures Progressive spasticity Tibial bowing Spondyloepiphyseal dysplasia Flat occiput Oral-pharyngeal dysphagia Elbow dislocation Short metatarsal Hyperkinesis Disproportionate short-limb short stature Joint dislocation Radial bowing Absence seizures Recurrent pneumonia Muscle stiffness Meningitis Sinusitis Rhizomelia Encephalocele Lumbar hyperlordosis Limb undergrowth Short metacarpal Premature birth Generalized myoclonic seizures Bell-shaped thorax Short femur Nausea Nail dystrophy Asplenia Facial hypotonia Protruding tongue Slender finger Bilateral cryptorchidism Radial deviation of finger Encephalitis Tented upper lip vermilion Scrotal hypoplasia Intellectual disability, progressive Thick lower lip vermilion Macroglossia Microtia Fused cervical vertebrae Distal tapering femur Multinucleated giant chondrocytes in epiphyseal cartilage Club-shaped proximal femur Thoracic platyspondyly Multiple joint dislocation Laryngeal stenosis Aplasia/Hypoplasia of the ulna Long clavicles Fibular aplasia Intestinal pseudo-obstruction Coronal cleft vertebrae Lethal skeletal dysplasia Abdominal distention Talipes Bilateral renal hypoplasia Pancreatitis Bilateral ptosis Oculomotor apraxia Clonus Hypertrichosis Blue sclerae Synophrys Tall chin Birth length less than 3rd percentile Abdominal obesity Male hypogonadism Large earlobe Agitation Spastic tetraparesis Hypoplastic toenails Lower limb spasticity Tetraparesis Growth hormone deficiency Round face Full cheeks Lactic acidosis Delayed puberty Attention deficit hyperactivity disorder Difficulty walking Gait ataxia Absent speech Myopia Patent foramen ovale Supernumerary nipple Narrow chest Abnormality of the ureter Generalized tonic-clonic seizures Autistic behavior Hyperlordosis Skeletal dysplasia Abdominal pain Depressivity Pain Sacrococcygeal teratoma Neoplasm of the nervous system Renal duplication Advanced eruption of teeth Multiple renal cysts Precocious puberty Narrow nasal bridge Genu varum Accelerated skeletal maturation Congenital hip dislocation Tall stature Depressed nasal ridge High forehead Cerebral white matter hypoplasia Narrow nasal tip Chordee Delayed CNS myelination Central hypotonia Syringomyelia Spinal canal stenosis U-Shaped upper lip vermilion Talipes calcaneovalgus Inguinal hernia Renal tubular acidosis Abnormal cortical gyration Chronic mucocutaneous candidiasis Hypoplasia of the pons Fair hair Renal tubular dysfunction Ocular albinism Severe failure to thrive Aspiration pneumonia IgG deficiency Severe sensorineural hearing impairment Hypopigmentation of hair Optic neuropathy Centrally nucleated skeletal muscle fibers Hypoplasia of the thymus Bronchitis Macular atrophy Neurodevelopmental delay Combined immunodeficiency Albinism Congenital sensorineural hearing impairment Adducted thumb Recurrent bacterial infections Lymphopenia Decreased liver function Abnormality of retinal pigmentation Decreased body weight Recurrent viral infections Cellular immunodeficiency Heterotopia Frontoparietal polymicrogyria Dysarthria Cognitive impairment Acute bronchitis White matter neuronal heterotopia Severe T-cell immunodeficiency Penile hypospadias Immunoglobulin IgG2 deficiency Ureteral atresia Aplasia/Hypoplasia of the macula Decreased T cell activation Cutaneous anergy Abnormal immunoglobulin level Schizencephaly Hypopigmentation of the fundus Abnormal macular morphology Muscle flaccidity Abnormality of the cerebellar vermis Abnormality of the thymus Abnormality of the optic disc Recurrent aspiration pneumonia Decreased proportion of CD4-positive T cells Abnormality of the mandible Pontocerebellar atrophy Granulocytopenia Abnormal posturing Recurrent fungal infections Left ventricular hypertrophy Progressive neurologic deterioration Widely-spaced maxillary central incisors Protruding ear High hypermetropia Spastic diplegia Cupped ear Chorioretinal coloboma Failure to thrive in infancy Cachexia Abnormality of the hair Situs inversus totalis Joint contracture of the hand Abnormality of the ribs Arachnodactyly Sparse hair Camptodactyly Ankylosis Abnormality of the nervous system Pes cavus Alopecia Cerebral atrophy Blindness Skeletal muscle atrophy Triangular nasal tip Overjet Paroxysmal bursts of laughter Alternating exotropia Hypoplastic philtrum Equinovarus deformity Prominent metopic ridge Sparse lateral eyebrow Cerebellar vermis hypoplasia Cerebellar atrophy Ventricular hypertrophy Hypotelorism Decreased antibody level in blood Sepsis Sleep disturbance Wide nose Pulmonary hypoplasia Polymicrogyria Cleft upper lip Congenital cataract Dilated cardiomyopathy Rod-cone dystrophy Myopathy Small face Cardiomyopathy Peripheral neuropathy Muscle weakness Abnormal hair laboratory examination Decreased head circumference Narrow foot Round ear Moderately short stature Macrodontia Anteverted ears Thin eyebrow Heterotaxy Abnormality of the rib cage Plantar crease between first and second toes



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